3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE?

Accepted Answer

rare (5 cases)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ ?

Question 3

Which enzymes are involved?

Accepted Answer

mitochondroial disorder is hypothesized

Disease	3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE
Gene locus
ICD	E71.1
Summary	rare (5 cases)
Laboratory findings	L-Lactic acid inc (plasma) 3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine) L-Lactic acid inc (urine) Pyruvic acid inc (urine)
Symptoms	lactic acidosis cardiomyopathy cataract cerebellar atrophy or hypoplasia coma early death mental retardation microcephaly (<2 SD for age) microphthalmus MRI, brain, abnormalities [-] onset, infancy onset, neonatal seizures