Diagnosis of Carnitine Acylcarnitine Translocase Deficiency by Complementation Analysis

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1994 Jan 1

PMID 7807931

Citations 6

Authors

M Brivet

A Slama

H Ogier

A Boutron

F Demaugre

J M Saudubray

A LEMONNIER

Affiliations

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Citing Articles

Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity.

Lund K, Scottoline B, Jordan B J Pediatr Genet. 2023; 12(2):179-183.

PMID: 37090833 PMC: 10118704. DOI: 10.1055/s-0041-1723960.

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

El-Gharbawy A, Vockley J Pediatr Clin North Am. 2018; 65(2):317-335.

PMID: 29502916 PMC: 6566095. DOI: 10.1016/j.pcl.2017.11.006.

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

Parini R, Invernizzi F, Menni F, Garavaglia B, Melotti D, Rimoldi M J Inherit Metab Dis. 1999; 22(6):733-9.

PMID: 10472533 DOI: 10.1023/a:1005548201355.

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing M, Iacobazzi V, IJlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L Am J Hum Genet. 1997; 61(6):1239-45.

PMID: 9399886 PMC: 1716087. DOI: 10.1086/301628.

Mammalian mitochondrial beta-oxidation.

Eaton S, Bartlett K, Pourfarzam M Biochem J. 1996; 320 ( Pt 2):345-57.

PMID: 8973539 PMC: 1217938. DOI: 10.1042/bj3200345.

References

Stanley C, Hale D, Berry G, DeLeeuw S, BOXER J, Bonnefont J . Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med. 1992; 327(1):19-23. DOI: 10.1056/NEJM199207023270104. View

Poll-The B, Skjeldal O, Stokke O, Poulos A, Demaugre F, Saudubray J . Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. Hum Genet. 1989; 81(2):175-81. DOI: 10.1007/BF00293897. View

Moon A, Rhead W . Complementation analysis of fatty acid oxidation disorders. J Clin Invest. 1987; 79(1):59-64. PMC: 423985. DOI: 10.1172/JCI112808. View

PANDE S, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray J . Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest. 1993; 91(3):1247-52. PMC: 288085. DOI: 10.1172/JCI116288. View