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Blood Spot Disorders: Additional Metabolic Disorders
Blood spot disorders screened in Minnesotan newborns are listed below. We provide fact sheets with disorder-specific information and next steps for both families and providers dealing with an abnormal newborn screening result. Also, specialist contact lists are provided for specific cases where the Newborn Screening Program recommends the primary care provider consult with a specialist for further follow-up recommendations.
See also the full list of blood spot disorders screened for in Minnesota. For more general information about blood spot screening, see our For Families and For Providers sections. Contact the Newborn Screening Program with questions.
Biotinidase deficiency (BTD)
FINDING
The enzyme biotinidase is either low or absent.
OTHER ASSOCIATED DISORDERS
None
CAUSE
There is not enough of the biotinidase enzyme to use and recycle an essential vitamin, biotin, from food needed for energy and growth.
EARLY SIGNS
There are two forms of this disease: profound and partial. If left untreated, profound deficiency can cause muscle weakness, hearing and vision problems, hair loss, skin rashes, and seizures. Partial deficiency is a milder form of this disorder.
TREATMENT
Consists of vitamin (biotin) supplements.
DISORDER GROUP
Metabolic
SCREENING METHOD
Fluorometry
FACT SHEETS
For Family - Borderline result: BTD (PDF)
For Family - Positive result: BTD (PDF)
For Provider - Positive result: BTD (PDF)
SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)
Galactoepimerase deficiency (GALE)
FINDING
Total galactose is at an elevated level.
OTHER ASSOCIATED DISORDERS
Galactokinase (GALK) deficiency
Duarte galactosemia
CAUSE
An enzyme needed to break down a sugar called galactose is not working correctly. Galactose comes from food, including breastmilk, dairy products, and many baby formulas.
EARLY SIGNS
There are three forms of GALE deficiency. Most babies with the disorder have the mildest form that usually causes no health problems.
TREATMENT
Treatment is not always needed. If treatment is recommended, it would consist of a special diet avoiding all milk products.
DISORDER GROUP
Metabolic
SCREENING METHOD
Fluorometry
FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: GALE (PDF)
For Provider - Positive result: GALE (PDF)
SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)
Galactokinase deficiency (GALK)
FINDING
Total galactose is at an elevated level.
OTHER ASSOCIATED DISORDERS
Galactoepimerase (GALE) deficiency
Duarte galactosemia
CAUSE
An enzyme needed to break down a sugar called galactose is not working correctly. Galactose comes from food, including breastmilk, dairy products, and many baby formulas.
EARLY SIGNS
If left untreated, children can develop cataracts.
TREATMENT
Consists of a special diet avoiding all milk products.
DISORDER GROUP
Metabolic
SCREENING METHOD
Fluorometry
FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: GALK (PDF)
For Provider - Positive result: GALK (PDF)
SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)
Galactosemia (GALT)
FINDING
The enzyme galactose-1-phosphate uridyltransferase (GALT) is either low or absent.
OTHER ASSOCIATED DISORDERS
Duarte galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
CAUSE
An enzyme needed to break down a sugar called galactose is not working correctly. Galactose comes from food, including breastmilk, dairy products, and many baby formulas.
EARLY SIGNS
Children are usually jaundiced (yellowing of skin and eyes) at first, lack energy, and feed poorly. If untreated, children can develop organ damage and life-threatening infections.
TREATMENT
Consists of a special diet avoiding all milk products.
DISORDER GROUP
Metabolic
SCREENING METHOD
Fluorometry
FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: GALT (PDF)
For Provider - Positive result: GALT (PDF)
SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)
X-linked adrenoleukodystrophy (X-ALD)
FINDING
The C26:0-lysophosphatidylcholine (C26:0-LPC) is at an elevated level.
OTHER ASSOCIATED DISORDERS
X-ALD carrier
Other peroxisomal disorders (e.g., Zellweger spectrum disorders)
CAUSE
Certain fats, called very long chain fatty acids, cannot be transported and broken down correctly.
EARLY SIGNS
There are three types of X-ALD found only in males. The most severe type typically presents with behavioral problems in childhood. If untreated, it can lead to learning disabilities, seizures, paralysis, and a shortened lifespan.
TREATMENT
Consists of medications and stem cell transplant.
DISORDER GROUP
Metabolic (peroxisomal disorder)
SCREENING METHOD
Liquid chromatography tandem mass spectrometry (LC-MS/MS)
FACT SHEETS
For Family - Borderline result (PDF)
For Family - Positive result: X-ALD (PDF)
For Provider - Positive result: X-ALD (PDF)
SPECIALIST CONTACT LIST
Metabolic/Bone Marrow Transplant Centers (PDF)