Blood Spot Disorders: Metabolic Disorders, Acylcarnitine Profile

2-Methyl-3-hydroxybutyric acidemia (2M3HBA)

FINDING
The acylcarnitine C5:1 (tiglylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
Beta-ketothiolase (BKT) deficiency

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy and males have more severe symptoms. Both males and females can have lack of energy, poor feeding, muscle weakness, and seizures.

TREATMENT
Consists of a special diet.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: 2M3HBA (PDF) (coming soon)
For Provider - Positive result: 2M3HBA (PDF) (coming soon)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG), aka short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency

FINDING
The acylcarnitine C5 (isovaleryl-/2-methylbutyrylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
Isovaleric acidemia (IVA)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
With only a few cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. In these reported cases, symptoms typically began in infancy and included poor feeding, lack of energy, and low blood sugar. Most people found to have SBCAD in Minnesota are of Hmong descent and never develop symptoms.

TREATMENT
Consists of a special diet and medications. Some children may never need treatment.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: 2MBG (PDF)
For Provider - Positive result: 2MBG (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG), aka HMG-CoA lyase deficiency

FINDING
The acylcarnitine C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency
3-Methylglutaconyl-CoA hydratase deficiency (3MGA)

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms typically begin in infancy and include poor feeding, lack of energy, muscle weakness, vomiting, low blood sugar, and behavior changes. If untreated, it can cause brain damage and a shortened lifespan.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: HMG (PDF)
For Provider - Positive result: HMG (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)

FINDING
The acylcarnitine C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
3-Methylglutaconyl-CoA hydratase deficiency (3MGA)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms typically begin in infancy and range from mild to life-threatening. Symptoms may include poor feeding, lack of energy, muscle weakness, vomiting, and seizures. If untreated, 3-MCC deficiency can cause brain damage and a shortened lifespan. Other people with 3-MCC deficiency never experience symptoms.

TREATMENT
Consists of a special diet and medications. Some children may never need treatment.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: 3-MCC (PDF)
For Provider - Positive result: 3-MCC (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

3-Methylglutaconyl-CoA hydratase deficiency (3MGA)

FINDING
The acylcarnitine C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)

CAUSE
The cause depends on the type of 3MGA. The cause for some of the types is not completely understood.

EARLY SIGNS
There are five types of 3MGA, but each type typically begins to show symptoms in the newborn period. All of the types cause issues with the child’s muscles and cause some sort of delays, in growth or development. Types 2, 3, and 5 can cause life-threatening heart problems.

TREATMENT
There are no specific treatments, but it is important for a cardiologist to monitor for heart problems.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: 3MGA (PDF)
For Provider - Positive result: 3MGA (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Beta-ketothiolase deficiency (BKT)

FINDING
The acylcarnitine C5:1 (tiglylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
2-Methyl-3-hydroxybutyric acidemia (2M3HBA)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy. If left untreated, the disorder can cause lack of energy, poor feeding, vomiting, diarrhea, and trouble breathing.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: BKT (PDF) (coming soon)
For Provider - Positive result: BKT (PDF) (coming soon)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine acylcarnitine translocase deficiency (CACT)

FINDING
The acylcarnitine C16 (hexadecanoylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
Carnitine palmitoyltransferase deficiency type 2 (CPT-II)

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
If untreated, the disorder can cause muscle weakness, low blood sugar, enlarged liver, breathing and heart problems, and seizures.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: CACT (PDF)
For Provider - Positive result: CACT (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine palmitoyltransferase deficiency type 1 (CPT-I)

FINDING
The acylcarnitine C0 (free carnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
If untreated, symptoms often appear in early childhood with lack of energy, irritability, poor appetite, vomiting, diarrhea, low blood sugar and enlarged liver. Symptoms can progress to liver failure, seizures, coma, and death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: CPT-1 (PDF)
For Provider - Positive result: CPT-1 (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine palmitoyltransferase deficiency type 2 (CPT-II)

FINDING
The acylcarnitine C16 (hexadecanoylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
Carnitine acylcarnitine translocase deficiency (CACT)

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
If untreated, the disorder can cause muscle weakness, low blood sugar, enlarged liver, breathing and heart problems, and seizures.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: CPT-II (PDF)
For Provider - Positive result: CPT-II (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine uptake defect (CUD), aka carnitine transport defect

FINDING
The acylcarnitine C0 (free carnitine) is either low or absent.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Health problems can range from mild to life-threatening. Symptoms often appear in infancy or early childhood with lack of energy, vomiting, low blood sugar, muscle weakness, and heart problems. If untreated, symptoms can progress to heart and liver failure, seizures, coma, and death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: CUD (PDF)
For Provider - Positive result: CUD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Dienoyl-CoA reductase deficiency (DE-RED)

FINDING
The acylcarnitine C10:2 (decadienoylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
With only two cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. Both children had a small head, muscle weakness, poor feeding, and a shortened lifespan.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: DE-RED (PDF)
For Provider - Positive result: DE-RED (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Glutaric acidemia type 1 (GA-I)

FINDING
The acylcarnitine C5-DC+C6-OH is at an elevated level. Additional screening shows elevated glutaric acid and 3-hydroxyglutaric acid.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Many children are usually healthy at birth but can have a large head. Some children have only a few health problems while others can have multiple health problems. If untreated, children can develop abnormal movement, problems with their muscles, and brain damage.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: GA-I (PDF)
For Provider - Positive result: GA-I (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Glutaric acidemia type 2 (GA-II), aka multiple acyl-CoA dehydrogenase deficiency (MADD)

FINDING
The acylcarnitines C4 (iso-/butyrylcarnitine) and C5 (isovaleryl-/2-methylbutyrylcarnitine) is at an elevated level. Additional screening shows elevated glutaric acid and 2-hydroxyglutaric acid.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
GA-2 is different for each child. Some children have severe symptoms that are present at birth and are life-threatening. Others have a less severe form that begins in childhood or adulthood with lack of energy, vomiting, low blood sugar, muscle weakness, and a “sweaty feet” smell. If untreated, symptoms can progress to trouble breathing, seizures, and death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: GA-II (PDF)
For Provider - Positive result: GA-II (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Isobutyryl-CoA dehydrogenase deficiency (IBD), aka isobutyrylglycinuria (IBG)

FINDING
The acylcarnitine C4 (iso-/butyrylcarnitine) is at an elevated level. Additional screening shows that ethylmalonic acid and methylsuccinic acid are within normal limits.

OTHER ASSOCIATED DISORDERS
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
With only one case reported amongst millions of children screened, it is difficult to know how the disorder affects children. The one child reported had delayed growth, lack of energy, and difficulty breathing, anemia, and an enlarged heart.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: IBD (PDF)
For Provider - Positive result: IBD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Isovaleric acidemia (IVA)

FINDING
The acylcarnitine C5 (isovaleryl-/2-methylbutyrylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Some children have few health problems while others have very serious symptoms. In severe cases, symptoms can begin within a few days of life. Symptoms can include poor feeding, vomiting, lack of energy, and seizures. If untreated, children can get very sick and go into a coma.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: IVA (PDF)
For Provider - Positive result: IVA (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

FINDING
The acylcarnitine C16-OH (3-OH-hexadecanoylcarnitine) is elevated.

OTHER ASSOCIATED DISORDERS
Trifunctional protein (TFP) deficiency

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Symptoms usually begin in infancy and can be life-threatening. If untreated, it can cause lack of energy, feeding difficulties, low blood sugar, muscle weakness, and liver problems.

TREATMENT
Consists of a special diet and avoiding fasting

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: LCHAD (PDF)
For Provider - Positive result: LCHAD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Malonic acidemia (MAL), aka malonyl-CoA decarboxylase (MCD) deficiency

FINDING
The acylcarnitine C3-DC (malonylcarnitine) is elevated.

OTHER ASSOCIATED DISORDERS
Medium/short-chain hydroxyacyl-CoA dehydrogenase (MSCHAD) deficiency

CAUSE
An enzyme needed to break down fats from food is not working correctly.

EARLY SIGNS
With only a few cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. In these reported cases, symptoms began between a few days of age up to 13 years of age. If untreated, symptoms include muscle weakness, diarrhea, vomiting, intellectual disabilities, enlarged heart, and seizures.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: MAL (PDF)
For Provider - Positive result: MAL (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)

FINDING
The acylcarnitine C4-OH (3-OH-iso-/butyrylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
Malonic acidemia (MAL)

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Most children never have symptoms. If untreated, some children present with lack of energy, vomiting, and low blood sugar. They are also at risk for seizures, life-threatening heart and breathing problems, and coma.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: M/SCHAD (PDF)
For Provider - Positive result: M/SCHAD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

FINDING
The acylcarnitine C8 (octanoylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Symptoms usually begin in infancy and include lack of energy, vomiting, and low blood sugar. If untreated, it can cause breathing difficulties, seizures, organ damage, coma, and possibly death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: MCAD (PDF)
For Provider - Positive result: MCAD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Medium-chain keto acyl-CoA thiolase deficiency (MCKAT)

FINDING
The acylcarnitines C5-DC (glutarylcarnitine) +C6-OH (3-hydroxyhexanoylcarnitine) and C8 (octanoylcarnitine) are at elevated levels.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
With only a few cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. Symptoms could include vomiting, poor feeding, low blood sugar, muscle weakness, enlarged heart, and coma.

TREATMENT
We do not yet know the effectiveness of treatment. Children should receive treatment based on their symptoms, such as intravenous (IV) fluids for dehydration and lowering the amount of acid in the blood.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: MCKAT (PDF) (coming soon)
For Provider - Positive result: MCKAT (PDF) (coming soon)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Methylmalonic acidemia (cobalamin disorders) (MMA), aka cobalamin A, B deficiencies

FINDING
The acylcarnitine C3 (propionylcarnitine) is at an elevated level. Additional screening shows elevated methylmalonic acid.

OTHER ASSOCIATED DISORDERS
Propionic acidemia (PA)
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms can begin in the newborn period and include lack of energy, poor feeding, vomiting, and muscle weakness. If untreated, the disorder can cause breathing troubles and brain damage.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: MMA (PDF)
For Provider - Positive result: MMA (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Methylmalonic acidemia (mutase deficiency) (MUT), aka methylmalonyl-CoA mutase deficiency

FINDING
The acylcarnitine C3 (propionylcarnitine) is at an elevated level. Additional screening shows elevated methylmalonic acid.

OTHER ASSOCIATED DISORDERS
Propionic acidemia (PA)
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia with homocystinuria

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin in the newborn period and include lack of energy, poor feeding, vomiting, and muscle weakness. If untreated, the disorder can cause breathing troubles and brain damage.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: MUT (PDF)
For Provider - Positive result: MUT (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Methylmalonic acidemia with homocystinuria (Cbl, C, D, F), aka cobalamin C, D, F deficiencies

FINDING
The acylcarnitine C3 (propionylcarnitine) is at an elevated level. Additional screening shows elevated methylmalonic acid.

OTHER ASSOCIATED DISORDERS
Propionic acidemia (PA)
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (mutase deficiency)

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin between the first few days of life and later childhood. Symptoms include growth delay, small head size, skin rash, vomiting, poor feeding, lack of energy, and muscle weakness.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: Cbl (PDF)
For Provider - Positive result: Cbl (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Multiple CoA carboxylase deficiency (MCD), aka holocarboxylase synthetase deficiency

FINDING
The acylcarnitines C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine) and C3 (propionylcarnitine) are at elevated levels.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed that attaches an essential vitamin, biotin, to other enzymes so that they can break down food for energy is not working correctly.

EARLY SIGNS
Symptoms begin in the newborn period and include poor feeding, lack of energy, vomiting, muscle weakness, peeling skin rash, and hair loss.

TREATMENT
Consists of vitamin (biotin) supplements.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: MCD (PDF) (coming soon)
For Provider - Positive result: MCD (PDF) (coming soon)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Propionic acidemia (PA)

FINDING
The acylcarnitine C3 (propionylcarnitine) is at an elevated level. Additional screening shows elevated methylcitric acid.

OTHER ASSOCIATED DISORDERS
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia (cobalamin disorders)

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin among the first few days of life. Symptoms include vomiting, poor feeding, lack of energy, and muscle weakness. If untreated, the disorder can cause heart problems, seizures, and coma.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: PA (PDF)
For Provider - Positive result: PA (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

FINDING
The acylcarnitine C4 (iso-/butyrylcarnitine) is at an elevated level. Additional screening shows elevated ethylmalonic acid and methylsuccinic acid.

OTHER ASSOCIATED DISORDERS
Isobutyryl-CoA dehydrogenase (IBD) deficiency

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Most children have no health problems. Some children may become ill with vomiting, lack of energy, low blood sugar, muscle weakness, and seizures.

TREATMENT
Treatment is not always recommended. If treatment is recommended, it would consist of medications and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
For Family - Positive result: SCAD (PDF)
For Provider - Positive result: SCAD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Trifunctional protein deficiency (TFP)

FINDING
The acylcarnitine C16-OH (3-OH-hexadecanoylcarnitine) is at an elevated level.

OTHER ASSOCIATED DISORDERS
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Symptoms usually begin in infancy and can be life-threatening. If untreated, it can cause lack of energy, feeding difficulties, low blood sugar, muscle weakness, and liver problems.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: TFP (PDF)
For Provider - Positive result: TFP (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

FINDING
The acylcarnitine C14:1 (tetradecenoylcarnitine) is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy and can be life-threatening. Symptoms include lack of energy, poor feeding, vomiting, low blood sugar, and muscle weakness. If untreated, it can lead to heart and liver problems.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
For Family - Positive result: VLCAD (PDF)
For Provider - Positive result: VLCAD (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)