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

Bonilla Guerrero, R; 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

Bonilla Guerrero, R; 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.

Affiliation

Bonilla Guerrero R; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

J Inherit Metab Dis ; 31 Suppl 2: S453-6, 2008 Dec.

Article in En | MEDLINE | ID: mdl-19089597

Subject(s)

Amino Acid Metabolism, Inborn Errors/diagnosis; Fatty Acids, Essential/blood; Nutrition Assessment; Peroxisomal Disorders/diagnosis; Amino Acid Metabolism, Inborn Errors/blood; Amino Acid Metabolism, Inborn Errors/complications; Amino Acid Metabolism, Inborn Errors/genetics; Biomarkers/blood; DNA Mutational Analysis; Humans; Infant; Infant, Newborn; Isovaleryl-CoA Dehydrogenase/blood; Isovaleryl-CoA Dehydrogenase/deficiency; Isovaleryl-CoA Dehydrogenase/genetics; Male; Neonatal Screening; Peroxisomal Disorders/blood; Peroxisomal Disorders/complications; Peroxisomal Disorders/genetics; Predictive Value of Tests

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fatty Acids, Essential / Nutrition Assessment / Peroxisomal Disorders / Amino Acid Metabolism, Inborn Errors Type of study: Prognostic_studies Limits: Humans / Infant / Male / Newborn Language: En Journal: J Inherit Metab Dis Year: 2008 Type: Article Affiliation country: United States

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