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Rare diseases / Fatty-acid metabolism disorder / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Glutaric aciduria type 1 / Carnitine / Biotinidase deficiency / Biotin / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Genetic genealogy / Medical genetics


Chart of Metabolic Disorders Screened Table of Disorders Screened by Program Condition Incidence
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Document Date: 2015-02-26 15:37:45


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IndustryTerm

energy / /

MedicalCondition

Hemoglobinopathies / Detected Other Disorders Biotinidase Deficiency / potential lethal coma / acyl-CoA Dehydrogenase Deficiency / carnitine Rare Muscle weakness / Possible seizures / mental retardation / eye abnormalities / Congenital Adrenal Hyperplasia / Severe Combined Immunodeficiency / CoA Lyase Deficiency / cardiomyopathy / CoA Dehydrogenase Deficiency / diet Mental retardation / glucose Rare Muscle weakness / seizures / hypoglycemia Avoid fasting Neonatal coma / shock / Rare Lethargy / n/a Mental retardation / coma / necessary Organic Acid Disorders Beta-Ketothiolase Deficiency / nausea / stroke / Congenital Hypothyroidism / skin rash / Citrullinemia / CoA Hydratase Deficiency / muscle weakness / 3hydroxyacyl-CoA Dehydrogenase Deficiency / branched chain amino acids Lethargy / dystonic cerebral palsy / lethargy / lack of appetite / females Mental retardation / threonine Seizures / Low phenylalanine diet Liver disease / growth delay Thyroid hormone replacement Pancreatic insufficiency / Galactosemia / coma Dietary restrictions Persistent vomiting / Heart problems Carnitine supplementation Vomiting / vomiting / Biotin supplementation Mental retardation / movement disorders / PKU / Sickle cell disease / SCID / enzyme replacement therapy Amino Acid Disorders Arginase Deficiency / Long Chain acylCoA Dehydrogenase Deficiency / Treatment Mental Retardation / arginine Sodium benzoate therapy Argininosuccinate Lyase Deficiency / Phenylketonuria / Multiple Carboxylase Deficiency / Cystic Fibrosis / symptoms Isobutyryl CoA Dehydrogenase Deficiency / lethargy Low protein diet Heart disease / CoA Carboxylase Deficiency / infections / low fat diet Possible coma / Maple Syrup Urine Disease / anemia / Medium Chain acylCoA Dehydrogenase Deficiency / respiratory distress / dehydration / Homocystinuria / /

MedicalTreatment

gene therapy / Thyroid hormone replacement / Low protein diet / Low-protein diet / enzyme replacement therapy / low fat diet / Liver transplant / bone marrow transplant / organ transplant / hormone treatment / dialysis / /

Product

Penicillin / Sodium bicarbonate / glycine / /

ProvinceOrState

Hawaii / /

Technology

gene therapy / dialysis / /

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