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Summary
3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE
rare (5 cases)
symptoms
cardiomyopathy
cataract
cerebellar atrophy or hypoplasia
coma
early death
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
microphthalmus
onset, infancy
onset, neonatal
seizures
laboratory finding
MRI, brain, abnormalities -
3-Methylglutaconic acid0.000.00 increasedurineno data
3-Methylglutaric acid0.000.00 increasedurineno data
L-Lactic acid0.000.00 increasedurineno data
Pyruvic acid0.000.00 increasedurineno data
L-Lactic acid increasedblood
Literature
Hayasaka K2-Ketoadipic dehydrogenase deficiency (2-ketoadipic acidemia)Ryoikibetsu Shokogun Shirizu180336-3371998
Vesela Ket al.Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 geneActa Paediatr9301312-13172004