D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings.

doi:10.1023/a:1015165212965

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Article

D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings.

Journal of inherited metabolic disease - 1 Feb 2002

Wajne M, Vargas C R, Funayama C, Fernandez A, Elias M L C, Goodman S I, Jakobs C, van der Knaap M S

Abstract excerpt

We report an infant with intermittent urinary excretion of D-2-hydroxyglutaric (D-2-OHG) acid who died at the age of 10 months from cardiogenic shock due to cardiomyopathy. High urinary concentrations of D-2-OHG and succinic acid, as well as increased levels of lactic acid were detected on three different occasions, whereas a normal urinary profile of organic acids was found on one occasion. The clinical findings...

Topics

Brain
Cardiomyopathies
Cells, Cultured
Citrate (si)-Synthase
Electron Transport Complex IV
Fibroblasts
Glutarates
Humans
Infant
Magnetic Resonance Imaging
Male
Phenotype
Radiography
Shock, Cardiogenic

Source

Open in PubMed

Identifiers

PMID: 11999977
DOI: 10.1023/a:1015165212965

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