Carnitine palmitoyltransferase I deficiency

Results: 23



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21Rare diseases / Newborn screening / Fatty-acid metabolism disorder / Biotinidase deficiency / Propionic acidemia / 3-Methylcrotonyl-CoA carboxylase deficiency / Carnitine palmitoyltransferase I / 2-Methylbutyryl-CoA dehydrogenase deficiency / Isovaleric acidemia / Health / Genetic genealogy / Medical genetics

Hygienic Laboratory The University of Iowa For Questions About Resubmission and Result Interpretation Contact Medical Consultants LABORATORY HOSPITAL

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:38:00
22Chemistry / Dietary supplements / Quaternary ammonium compounds / Carnitine / Systemic primary carnitine deficiency / Hypoglycemia / Carnitine palmitoyltransferase I deficiency / Carnitine-acylcarnitine translocase deficiency / Medicine / Health / Hepatology

PARENT FACT SHEET DISORDER Carnitine uptake defect (CUD) CAUSE CUD occurs when an enzyme, called “carnitine transporter” (CT), is either missing or not working properly.

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Source URL: chfs.ky.gov

Language: English - Date: 2014-08-08 20:00:05
23Newborn screening / Propionic acidemia / Methylmalonic acidemia / Acyl CoA dehydrogenase / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Malonyl-CoA decarboxylase deficiency / Isovaleric acidemia / Carnitine palmitoyltransferase I / 3-Methylcrotonyl-CoA carboxylase deficiency / Health / Rare diseases / Medicine

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Source URL: www.dhhs.nh.gov

Language: English - Date: 2010-10-25 15:14:39
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