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| 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 |
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