Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

J Inherit Metab Dis. 1996;19(2):181-4. doi: 10.1007/BF01799424.

Authors

M Brivet¹, A Slama, D S Millington, C R Roe, F Demaugre, A Legrand, A Boutron, F Poggi, J M Saudubray

Affiliation

¹ Laboratoire de Biochimie, Hopital de Bicêtre, Le Kremlin-Bicetre, France.

PMID: 8739960
DOI: 10.1007/BF01799424

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Acylation
Carnitine / analysis*
Carnitine / metabolism
Carnitine Acyltransferases / deficiency*
Carnitine O-Palmitoyltransferase / metabolism
Female
Fibroblasts / enzymology
Humans
Infant
Intracellular Membranes / metabolism
Lymphocytes / enzymology
Male
Mitochondria / metabolism
Retrospective Studies

Substances

Carnitine Acyltransferases
Carnitine O-Palmitoyltransferase
Carnitine