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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
microphthalmus
onset, infant
onset, newborn
seizures
laboratory finding
MRI, brain, abnormalities -
3-Methylglutaconic acid0.000.00 increasedurineno data
3-Methylglutaric acid0.000.00 increasedurineno data
Lactate0.000.00 increasedurineno data
Pyruvate, Pyruvic acid0.000.00 increasedurineno data
Lactate 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