3-METHYLGLUTACONIC ACIDURIA (TYPE IX); MGCA9

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE IX); MGCA9?

Accepted Answer

rare
autosomal recessive
mutation in the TIMM50 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 9

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617698

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial import inner membrane translocase subunit TIM50

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE IX); MGCA9
Synonym	MITOCHONDRIAL EPILEPTIC ENCEPHALOPATHY, TIMM50
OMIM	617698 OMIM = Online Mendelian Inheritance of Men
Orphanet	505216
Protein (UniProt)	Mitochondrial import inner membrane translocase subunit TIM50
Gene locus	19q13.2
ICD
Summary	rare autosomal recessive mutation in the TIMM50 gene
Laboratory findings	3-Methylglutaconic acid inc (urine) L-Lactic acid inc (plasma)
Symptoms	lactic acidosis behavior, aggressive cardiomyopathy cerebral atrophy defect of walking, running, rising or climbing EEG abnormalities [-] failure to thrive hyperreflexia hypertonia, spasticity hypoplasia of optic nerve or disk hypotonia intellectual disability/intellectual developmental disorder MRI, brain, abnormalities [-] muscle weakness neutropenia (decreased neutrophils) onset, infancy onset, neonatal optic atrophy seizures speech development, delayed, abnormal