title: Features of carnitine palmitoyltransferase type I deficiency.
abstract: Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, while the other isoform occurs in skeletal muscle and is the predominant form in heart. Reported patients with CPT I deficiency lack activity of the hepatic isoform and present before 30 months of age with hypoketotic hypoglycaemia, hepatomegaly with raised transaminases, seizures and coma. We discuss four new cases in three families showing, variously, renal tubular acidosis, transient hyperlipidaemia and, paradoxically, myopathy with elevated creatinine kinase or cardiac involvement in the neonatal period as additional features that deserve wider recognition.
authors: Neonatal Screening and Chemical Pathology, Sheffield Children's Hospital, UK.
authors: S E
authors: SE
authors: Olpin
authors: J
authors: J
authors: Allen
authors: J R
authors: JR
authors: Bonham
authors: S
authors: S
authors: Clark
authors: P T
authors: PT
authors: Clayton
authors: J
authors: J
authors: Calvin
authors: M
authors: M
authors: Downing
authors: K
authors: K
authors: Ives
authors: S
authors: S
authors: Jones
authors: N J
authors: NJ
authors: Manning
authors: R J
authors: RJ
authors: Pollitt
authors: S J
authors: SJ
authors: Standing
authors: M S
authors: MS
authors: Tanner
mesh_terms: D000141:Acidosis, Renal Tubular / Q000201:enzymology; D009202:Cardiomyopathies / Q000201:enzymology; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000201:enzymology; D007231:Infant, Newborn; D008297:Male; D009135:Muscular Diseases / Q000201:enzymology
chemical_list: D002334:Carnitine O-Palmitoyltransferase