The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 352-354

  Hargreaves, I P ^a   Heales, S J R ^a   Olpin, S E ^b   Morgan Hughes, J A ^a   Land, J M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; MITOCHONDRIAL ENZYME;

ADULT; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; MALE; MUSCLE BIOPSY; RESPIRATORY CHAIN; SKELETAL MUSCLE;

ADULT; BIOPSY; CARNITINE O-PALMITOYLTRANSFERASE; HUMANS; KIDNEY FAILURE, ACUTE; LIPID METABOLISM, INBORN ERRORS; MALE; MUSCLE, SKELETAL; MYOGLOBINURIA;

EID: 0034040950     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005627113617     Document Type: Conference Paper

References (6)

1. Demaugre F, Bonnefont J-P, Colonna M, Cepaec C, Leroux J-P and Saudubray J-M (1991) Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: two distinct entities. J Clin Invest 87: 859-864.
2. Heales SJR, Hargreaves IP, Olpin SE, et al (1996) Diagnosis of mitochondrial electron transport chain defects in small muscle biopsies. J Inher Metab Dis 19(supplement 1): P151.
3. Hug G, Bove KE, Soukup S, Elpeleg ON, Joseph A, Guttman A (1994) Profound carnitine palmitoyltransferase II deficiency. J Pediatr 122: 159-161.
4. Land JM, Mistry S, Squier M, et al (1995) Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy. Neuromusc Disord 5: 129-137.
5. Saggerson ED, Carpenter CA (1981) Carnitine palmitoyltransferase and carnitine octanoyltransferase activities in liver, kidney cortex, adipocyte, lactating mammary gland, skeletal muscle and heart. Relative activities, latency and effect of malonyl-CoA FEBS Lett 129: 229-232.
6. Shepherd JA, Garland PB (1969) Citrate synthase activity from rat liver. Methods Enzymol 13: 11-19.