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Rare diseases / Newborn screening / Carnitine-acylcarnitine translocase deficiency / Fatty-acid metabolism disorder / Carnitine / Phenylketonuria / Glutaric aciduria type 1 / Systemic primary carnitine deficiency / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Medicine / Genetic genealogy


Microsoft Word - FINALDisordersDetectableTable42511
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Document Date: 2014-08-13 12:31:27


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File Size: 66,50 KB

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Company

NBS Metabolic Disorders Confirmatory Laboratory / State Genetic Disease Laboratory / /

Event

Product Issues / Product Recall / FDA Phase / /

IndustryTerm

nut products / medical food / medium chain triglyceride oil / /

MedicalCondition

Microcephaly / untreated Treatment Increased C4 acylcarnitine Deficiency / HMGCoA lyase deficiency / LCHAD deficiency / Fanconi syndrome / Homocystinuria AKA / ORGANIC ACID DISORDERS / Increased C5 acylcarnitine Deficiency / untreated Treatment Increased C5DC acylcarnitine Deficiency / untreated Treatment Disorder / acidosis / muscular hypertonicity / liver dysfunction / seizures / Liver failure / movement disorder / coma / cirrhosis / Multiple acyl CoA dehydrogenase deficiency / muscle weakness / renal tubular dysfunction / Primary Carnitine Deficiency / Tyrosinemia / skeletal myopathy / Severe metabolic acidosis / Carnitine Uptake Deficiency / Medium Chain Acyl CoA Dehydrogenase Deficiency / Disorder / rickets / diarrhea / Phenylketonuria / hydroxyacyl-CoA dehydrogenase deficiency / hepatomas / pigmentary retinopathy / MS / hypoglycemia / Hypoketotic hypoglycemia / systemic carnitine deficiency / deficiency AKA / hepatic disease / untreated Treatment CoA lyase deficiency / hyperammonemia / acute encephalopathy / mental retardation / carboxylase deficiency syndrome / cardiomyopathy / untreated Treatment Deficiency / disease / AMINO ACID DISORDERS Disorder / MS/MS Screen Enzyme Defect Recommended follow-up Disorder / Beta-ketothiolase Deficiency / succinylacetone Deficiency / Biopterin synthesis disorders / Metabolic acidosis / episodic vomiting / hypothermia / thromboembolism / lethargy / rhabdomyolysis / acidosis/ketosis / Methylbutryl-CoA Dehydrogenase Deficiency / Branched chain ketoaciduria / ketosis / untreated Treatment Increased C5 acylcarnitine Deficiency / vomiting / This disease / Hereditary tyrosinemia / ASA Deficiency / Carnitine Transporter Deficiency / PKU / osteoporosis / Citrullinemia AKA / Increased C5OH acylcarnitine Deficiency / hypotonia / Severe hypoglycemia / hyperventilation / Deficiency / Short Chain Acyl CoA Dehydrogenase Deficiency / Maple Syrup Urine Disease / such disorders / Argininemia AKA / disorders / /

MedicalTreatment

Liver transplant / Low protein diet / Low fat diet / /

Organization

Metabolic Center / MADD / California Department of Public Health Newborn Screening Program Descriptions of Disorders Detectable / Metabolic Special Care Center / /

Product

filter paper specimen / positive referral / Glycine / C4 / C5OH / C5 / C5DC / C6-C10 / C0 / C18 / /

Technology

alpha / CAT / /

SocialTag