Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

R. Bonilla Guerrero, L. A. Wolfe, N. Payne, S. Tortorelli, D. Matern, P. Rinaldo, D. Gavrilov, M. Melan, M. He, S. J. Steinberg, G. V. Raymond, J. Vockley, K. M. Gibson

Research output: Contribution to journalArticle

Abstract

We report a 16-month-old asymptomatic male with enzyme confirmed isovaleric acidaemia (IVA; isovaleryl-CoA dehydrogenase deficiency; OMIM 243500) who, upon routine nutritional followup, presented evidence of peroxisomal dysfunction. The newborn screen (2 days of life) revealed elevated C5-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 C26:0 (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.

Original languageEnglish (US)
Pages (from-to)S453-S456
JournalJournal of Inherited Metabolic Disease
Volume31
Issue numberSUPPL. 2
DOIs
StatePublished - Dec 2008

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Guerrero, R. B., Wolfe, L. A., Payne, N., Tortorelli, S., Matern, D., Rinaldo, P., Gavrilov, D., Melan, M., He, M., Steinberg, S. J., Raymond, G. V., Vockley, J., & Gibson, K. M. (2008). Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. Journal of Inherited Metabolic Disease, 31(SUPPL. 2), S453-S456. https://doi.org/10.1007/s10545-008-1039-y