3-METHYLGLUTACONIC ACIDURIA (TYPE III)

Q: What is 3-METHYLGLUTACONIC ACIDURIA (TYPE III)?

rare (<1:200000) autosomal recessive mutation in the OPA3 gene Most of the patients are of Iraqi-Jewish origin, mutation in the OPA3 gene was identified.

Q: Gibt es eine deutsche Bezeichnung?

3-Methylglutaconazidurie Typ 3 (Costeff-Syndrom)

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE III)?

Accepted Answer

rare (<1:200000)
autosomal recessive
mutation in the OPA3 gene
Most of the patients are of Iraqi-Jewish origin, mutation in the OPA3 gene was identified.

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 3 (Costeff-Syndrom)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 258501

Question 4

Which enzymes are involved?

Accepted Answer

Optic atrophy 3 protein

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE III)
Synonym	COSTEFF SYNDROME; OPTIC ATROPHY PLUS SYNDROME;MGA3
OMIM	258501 OMIM = Online Mendelian Inheritance of Men
Orphanet	67047
Protein (UniProt)	Optic atrophy 3 protein
Gene locus	19q13.2-13.3
ICD	E71.1
Summary	rare (<1:200000) autosomal recessive mutation in the OPA3 gene Most of the patients are of Iraqi-Jewish origin, mutation in the OPA3 gene was identified.
Laboratory findings	3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine)
Symptoms	spastic paraplegia ataxia chorea or athetosis cognitive impairment dysarthria extrapyramidal signs hyperreflexia mental retardation MRI, brain, abnormalities [-] neurological deterioration nystagmus nystagmus onset, infancy optic atrophy Organic acids, urine spastic diplegia/quadriplegia/tetraplegia speech development, delayed, abnormal