In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 31, No. S2 ( 2008-12), p. 453-456
Kurzfassung:
We report a 16‐month‐old asymptomatic male with enzyme confirmed isovaleric acidaemia (IVA; isovaleryl‐CoA dehydrogenase deficiency; OMIM 243500) who, upon routine nutritional follow‐up, presented evidence of peroxisomal dysfunction. The newborn screen (2 days of life) revealed elevated C 5 ‐carnitine (2.95 μmol/L; cutoff 〈 0.09 μmol/L) and IVA was subsequently confirmed by metabolic profiling and in vitro enzymology. Plasma essential fatty acid (EFA) analysis, assessed to evaluate nutritional status during protein restriction and l ‐carnitine supplementation, revealed elevated C 26:0 (5.0 μmol/L; normal 〈 1.3). Subsequently, metabolic profiling and molecular genetic analysis confirmed X‐linked adrenoleukodystrophy (XALD). Identification of co‐inherited XALD with IVA in this currently asymptomatic patient holds significant treatment ramifications for the proband prior to the onset of neurological sequelae, and critically important counselling implications for this family.
Materialart:
Online-Ressource
ISSN:
0141-8955
,
1573-2665
DOI:
10.1007/s10545-008-1039-y
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2008
ZDB Id:
2006875-X
