3-METHYLGLUTACONIC ACIDURIA (TYPE VIII); MGCA8

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE VIII); MGCA8?

Accepted Answer

rare
autosomal recessive
mutation in the HTRA2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 8

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617248

Question 4

Which enzymes are involved?

Accepted Answer

Serine protease HTRA2, mitochondrial

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE VIII); MGCA8
Synonym	HTRA2
OMIM	617248 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Serine protease HTRA2, mitochondrial
Gene locus	2p13.1
ICD
Summary	rare autosomal recessive mutation in the HTRA2 gene
Laboratory findings	3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine) L-Lactic acid normal/inc (cerebrospinal fluid) L-Lactic acid normal/inc (plasma)
Symptoms	lactic acidosis apnea bradycardia cardiac involvement, cardiac defects cataract cerebral atrophy dysphagia dystonia early death feeding difficulties, poor feeding hearing defect, deafness hypertonia, spasticity hypotonia microcephaly (<2 SD for age) neutropenia (decreased neutrophils) onset, infancy onset, neonatal respiratory insufficiency seizures tremor or twitching