Features of carnitine palmitoyltransferase type I deficiency

Journal of Inherited Metabolic Disease

Volumn 24, Issue 1, 2001, Pages 35-42

  Olpin, S E ^a   Allen, J ^a   Bonham, J R ^a   Clark, S ^a   Clayton, P T ^b   Calvin, J ^c   Downing, M ^a   Ives, K ^d   Jones, S ^d   Manning, N J ^a   Pollitt, R J ^a   Standing, S J ^e   Tanner, M S ^f  

^a Neonatal Screening and Chemical Pathology   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^e Clinical Biochemistry ^*  (United Kingdom)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE; CREATINE KINASE; ISOPROTEIN; LONG CHAIN FATTY ACID; MEDIUM CHAIN TRIACYLGLYCEROL;

AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CARNITINE PALMITOYLTRANSFERASE DEFICIENCY; CASE REPORT; CHILD; COMA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY; FEMALE; FIBROBLAST; GENE; HEART; HEART DISEASE; HEPATOMEGALY; HUMAN; HYPERLIPIDEMIA; HYPOGLYCEMIA; INFANT; KETOACIDOSIS; KIDNEY; KIDNEY TUBULE ACIDOSIS; LIVER; LOW FAT DIET; MALE; MYOPATHY; NEWBORN PERIOD; ONSET AGE; OXIDATION; PROTEIN EXPRESSION; SEIZURE; SKELETAL MUSCLE; TISSUE SPECIFICITY;

ACIDOSIS, RENAL TUBULAR; CARDIOMYOPATHIES; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; HUMANS; HYPERLIPIDEMIAS; INFANT, NEWBORN; MALE; MUSCULAR DISEASES;

EID: 0035107321     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005694320063     Document Type: Article

References (16)

1. Rate-dependent distal renal tubular acidosis in carnitine palmitoyltransferase type I deficiency
2. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
3. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I “CPTIA and CPTIB”
4. Hepatic and muscle presentations of carnitine palmitoyltransferase deficiency: Two distinct entities
5. Lethal neonatal presentation of CPT I deficiency
6. Brief report: Renal tubular acidosis in carnitine palmitoyltransferase type I deficiency
7. Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family
8. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
9. 3H]palmitic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts
10. The mitochondrial carnitine palmitoyltransferase system: From concept to molecular analysis
11. Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency
12. 3H]Oleic acid for the improved detection of long-chain fatty acid oxidation defects in intact cells
13. Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy
14. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
15. Normal muscle CPT I and CPT II activities in hepatic presentation patients with CPT I deficiency in fibroblasts: Tissue specific isoforms of CPT I
16. Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I