3-METHYLGLUTACONIC ACIDURIA (TYPE VII)

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE VII)?

Accepted Answer

very rare
autosomal recessive
mutation in the CLPB gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 7

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616271

Question 4

Which enzymes are involved?

Accepted Answer

Caseinolytic peptidase B protein homolog

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE VII)
Synonym	3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN
OMIM	616271 OMIM = Online Mendelian Inheritance of Men
Orphanet	445038
Protein (UniProt)	Caseinolytic peptidase B protein homolog
Gene locus	11q13.4
ICD	E71.1
Summary	very rare autosomal recessive mutation in the CLPB gene
Laboratory findings	3-Methylglutaconic acid inc (urine)
Symptoms	cataract cerebellar atrophy or hypoplasia cerebral atrophy dysmorphism early death extrapyramidal signs feeding difficulties, poor feeding hypotonia infections (severe or recurrent) microcephaly (<2 SD for age) neutropenia (decreased neutrophils) onset, neonatal seizures