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

doi:10.1007/s10545-008-1039-y

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

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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 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.

Original language	English (US)
Pages (from-to)	S453-S456
Journal	Journal of Inherited Metabolic Disease
Volume	31
Issue number	SUPPL. 2
DOIs	https://doi.org/10.1007/s10545-008-1039-y
State	Published - Dec 2008

All Science Journal Classification (ASJC) codes

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

@article{3568e8bd0b3440e1a7e9442cfa6e29c8,

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

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.",

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

year = "2008",

month = dec,

doi = "10.1007/s10545-008-1039-y",

language = "English (US)",

volume = "31",

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journal = "Journal of Inherited Metabolic Disease",

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publisher = "Springer Netherlands",

number = "SUPPL. 2",

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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, pp. S453-S456. https://doi.org/10.1007/s10545-008-1039-y

TY - JOUR

T1 - Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

AU - Guerrero, R. Bonilla

AU - Wolfe, L. A.

AU - Payne, N.

AU - Tortorelli, S.

AU - Matern, D.

AU - Rinaldo, P.

AU - Gavrilov, D.

AU - Melan, M.

AU - He, M.

AU - Steinberg, S. J.

AU - Raymond, G. V.

AU - Vockley, J.

AU - Gibson, K. M.

PY - 2008/12

Y1 - 2008/12

N2 - 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.

AB - 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.

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IS - SUPPL. 2

ER -

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

Abstract

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