Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

Abstract

Carnitine-acylcarnitine translocase deficiency is a newly recognized inborn error of metabolism that involves transport of long-chain fatty acids into mitochondria, which in turn impairs mitochondrial beta-oxidation, and ketogenesis. We report a new familial example; the affected twins had neonatal distress, hyperammonemia, and transient intracardiac conduction defects. Clinical and biochemical analysis of both our patients and the two previously reported patients revealed that this inherited defect could be manifested during the neonatal period without any of the signs classically associated with fatty oxidation defects. In contrast, all four patients had sustained and "isolated" hyperammonemia, which could be misinterpreted as being caused by urea cycle defects. We conclude that carnitine-acylcarnitine translocase deficiency is a potential differential diagnosis in neonates with unexplained neonatal hyperammonemia. Cardiac and muscle involvement may represent further early pivotal symptoms.

• Authors: H Ogier de Baulny, A Slama, G Touati, D M Turnbull, M Pourfarzam, M Brivet
• Journal: The Journal of pediatrics (J Pediatr) Vol. 127 Issue 5 Pg. 723-8 (Nov 1995) ISSN: 0022-3476 [Print] United States
• PMID: 7472823 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Ammonia
• Carnitine Acyltransferases

Topics

• Ammonia (blood)
• Carnitine Acyltransferases (analysis, deficiency)
• Diagnosis, Differential
• Diseases in Twins (diagnosis, etiology, genetics)
• Fatal Outcome
• Female
• Humans
• Infant, Newborn
• Infant, Premature
• Lipid Metabolism, Inborn Errors (blood, diagnosis, etiology, genetics)