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Blood Spot Conditions: Lysosomal Storage Conditions
Blood spot conditions screened in Minnesotan newborns are listed below. We provide fact sheets with condition-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 conditions 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.
Krabbe disease (also called globoid cell leukodystrophy)
FINDING
Low levels of an enzyme called galactosylceramidase (GALC) and high levels of a fat called psychosine.
OTHER ASSOCIATED DISORDERS
Saposin A deficiency — described in <10 patients
CAUSE
People with Krabbe disease can't make an enzyme called galactosylceramidase. This leads to a loss of myelin, the protective coating on the body's nerves.
Loss of myelin can lead to nerve damage. This nerve damage keeps the brain from sending signals to the body, leading to Krabbe disease symptoms.
EARLY SIGNS
There are two main types of Krabbe disease: infantile and late-onset. With the infantile form, symptoms can begin in the first two months of life. If untreated, it can cause irritability, seizures, blindness, deafness, and death within the first two years of life.
TREATMENT
Consists of supportive therapies and management like physical therapy and medications. Stem cell transplant is available for infantile cases and best if given before symptoms start.
DISORDER GROUP
Lysosomal storage disorders
SCREENING METHOD
Flow injection analysis-tandem mass spectrometry (FIA-MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories
FACT SHEETS
For Family: Significantly Elevated Psychosine: Risk for Krabbe Disease (PDF)
For Family: Elevated Psychosine: Risk for Krabbe Disease (PDF)
For Providers: Significantly Elevated Psychosine (PDF)
For Providers: Elevated Psychosine (PDF)
SPECIALIST CONTACT LIST
Specialist Resources: Krabbe
Mucopolysaccharidosis type 1 (MPS I), aka Hurler-Scheie syndrome
FINDING
The enzyme alpha-L-iduronidase (IDUA) is either low or absent. Additional screening shows elevated complex sugars called glycosaminoglycans (dermatan sulfate and heparan sulfate).
OTHER ASSOCIATED DISORDERS
None
CAUSE
An enzyme needed to break down complex sugars from food is not working correctly.
EARLY SIGNS
There are two forms of MPS I: severe and attenuated. With the severe form, symptoms begin in the first year or two of life. If untreated, it can cause a large head size, bone and joint problems, heart problems, large liver and spleen, vision and hearing problems, intellectual disability, and possibly a shortened lifespan.
TREATMENT
Enzyme replacement therapy has shown to slow or stabilize symptoms. The primary treatment for the majority of children with the severe form is a stem cell transplant.
DISORDER GROUP
Lysosomal storage disorders
SCREENING METHOD
Flow injection analysis-tandem mass spectrometry (FIA-MS/MS)
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories
FACT SHEETS
For Family - Positive result: MPS I (PDF)
For Provider - Positive result: MPS I (PDF)
SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)
Pompe disease (POMPE), aka glycogen storage disease type II
FINDING
The enzyme acid alpha-glucosidase (GAA) is either at low levels or absent. Additional screening shows reduced GAA activity and an elevated (creatine/creatinine)/GAA ratio.
OTHER ASSOCIATED DISORDERS
None
CAUSE
An enzyme needed to break down complex sugars from food is not working correctly.
EARLY SIGNS
There are three types and the severity and the age at which symptoms begin differ among them. With the most severe form, symptoms begin in the newborn period and include muscle weakness, heart problems, large liver, breathing problems, and possibly a shortened lifespan.
TREATMENT
Consists of enzyme replacement therapy.
DISORDER GROUP
Lysosomal storage disorders
SCREENING METHOD
Flow injection analysis-tandem mass spectrometry (FIA-MS/MS)
2nd tier: follow-up flow injection analysis-tandem mass spectrometry (FIA-MS/MS) by Mayo Clinic Laboratories
FACT SHEETS
For Family - Positive result: POMPE (PDF)
For Provider - Positive result: POMPE (PDF)
SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)