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 26:0 (5.0 μmol/L; normal

Original languageEnglish (US)
JournalJournal of Inherited Metabolic Disease
Volume31
Issue numberSUPPL. 2
DOIs
StatePublished - 2008

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Adrenoleukodystrophy
Essential Fatty Acids
Nutrition Assessment
Genetic Databases
Carnitine
Newborn Infant
Enzymes
Isovaleric acidemia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. / Guerrero, R. Bonilla; 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.

In: Journal of Inherited Metabolic Disease, Vol. 31, No. SUPPL. 2, 2008.

Research output: Contribution to journalArticle

Guerrero, RB, Wolfe, LA, Payne, N, Tortorelli, S, Matern, D, Rinaldo, P, Gavrilov, D, Melan, M, He, M, Steinberg, SJ, Raymond, GV, Vockley, J & Gibson, KM 2008, 'Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia', Journal of Inherited Metabolic Disease, vol. 31, no. SUPPL. 2. https://doi.org/10.1007/s10545-008-1039-y
Guerrero, R. Bonilla ; 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. / Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. In: Journal of Inherited Metabolic Disease. 2008 ; Vol. 31, No. SUPPL. 2.
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