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Rare diseases / Fatty acids / Carnitine palmitoyltransferase I / Carnitine / Hypoglycemia / Ketotic hypoglycemia / Acute fatty liver of pregnancy / Newborn screening / Fatty acid metabolism / Medicine / Health / Hepatology


Disease Name CARNITINE PALMITOYL TRANSFERASE I DEFICIENCY (CPT1) (CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY; CPT I DEFICIENCY; CPT DEFICIENCY, HEPATIC, TYPE I) Fatty acid oxidation defect Classification:
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Document Date: 2007-06-25 16:36:02

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Company

CVS / /

Facility

Oregon Health Services University / /

IndustryTerm

oil supplement / /

MedicalCondition

lethargy / CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY / Hepatic dysfunction / acute fatty liver / vomiting / CPT DEFICIENCY / I DEFICIENCY / Transient hypertriglyceridemia / Persistent neurologic deficit / seizures / chronic muscle weakness / myoglobinuria / diarrhea / infection / Renal tubular acidosis / coma / MS / hypoglycemia / Hypoketotic hypoglycemia / cardiomegaly / /

Organization

Oregon Health Services University in Portland / CPT IA / /

Person

Lorinda Paradise / Sara Copeland / Judith Tuerck / /

ProvinceOrState

Oregon / Iowa / /

PublishedMedium

Natural History / /

SocialTag