|
Disorder
|
Analyte Measured
|
Results If Untreated
|
Treatment
|
|
Phenylketonuria (PKU)
|
Phenylalanine level (Phe)
|
Mental retardation, seizures
|
Low phe diet
|
|
Congenital Hypothyroidism (CH)
|
Thyroid stimulating hormone (TSH)
|
Mental retardation, growth delay
|
Thyroid hormone
|
|
Galactosemia
|
Total galactose, galactosemia enzyme (GALT)
|
Infection, cataracts, liver disease, mental retardation
|
Galactose free diet
|
|
Congenital Adrenal Hyperplasia (CAH)
|
17-alpha hydroxy progesterone (17-OHP)
|
Electrolyte imbalance, shock, infant death
|
Adrenal hormone replacement
|
|
Hemoglobinopathies (most important -Sickle Cell Disease)
|
Hemoglobin isoelectric focusing
|
Multiple medical conditions
|
Antibiotic prohylaxis, specialized preventive health care
|
|
Medium Chain Acyl-CoA Dehyrogenase (MCAD) Deficiency
|
Levels of fatty acid acylcarnitines – C8, C6, C10:1
|
Variable, but may include sudden death, seizures, neurologic syndromes
|
Diet, avoidingfasts, certain medications
|
|
Other Fatty Acid Oxidation (FAO) disorders
|
Levels and ratios of various fatty acid acylcarnitines
|
Variable, but may include sudden death, seizures, neurolgic syndromes
|
Diet, avoiding fasts, certain medications
|
|
Maple Syrup Urine Disease (MSUD)
|
Blood levels of leucine/isoleucine
|
Neonatal coma, seizures, acidosis, mental retardation
|
Diet low in branched chain amino acids
|
|
Glutaric Acidemia
|
Acylcarnitine, C5-DC
|
Seizures, athetosis, motor disability
|
Diet, certain medications
|
|
Other Organic Acid disorders
|
Specific acylcarnitines
|
Variable
|
Variable
|
|
Homocystinuria
|
Methionine level
|
Characteristic body habitus, eye anomalies, mental retardation, hypercoagulable
|
Diet, medications
|
|
Other disorders of amino acid metabolism
|
Blood arginine, tyrosine, citrulline
|
Variable
|
Diet, variable
|
|
Biotinidase Deficiency
|
Biotinidase activity
|
Seizures, rash, mental retardation, hearing loss
|
High dose biotin
|
| Severe Combined Immunodeficiency (SCID)
|
T-cell Receptor Excision circles (TRECs)
|
Death
|
Bone marrow/stem cell transplantation
|
| MPS-I Mucopolysaccharidosis Type I
|
Alpha-L-iduronidase (IDUA)
|
Progressive debilitating neurological, gastrointestinal and musculoskeletal symptoms
|
Bone marrow transplant/enzyme replacement therapy
|
| Glycogen Storage Disease Type II (Pompe)
|
Alpha-glucosidase
|
Progressive muscle weakness and respiratory insufficiency
|
Enzyme replacement therapy
|
| X-linked Adrenoleukodystrophy
|
Lysophosphatidylcholine
|
Adrenal insufficiency and/or neurological problems
|
Hormone replacement and/or stem cell transplantation
|
| Spinal Muscular Atrophy
|
Mutation in Spinal Motor Neuron 1 gene
|
Progressive muscle weakness, death
|
Intrathecal protein infusions/gene therapy
|
