3-Methylglutaconic Aciduria (3MGCA) is seen in a group of genetic mitochondrial disorders. Other organic acids may also be excreted in the urine.
|
Name
|
Defect
|
Formerly
|
|
3-methylglutaconyl-CoA hydratase deficiency
|
AUH
|
3-MGCA type I
|
|
Barth Syndrome
|
TAZ
|
3-MGCA type II
|
|
MEGDEL Syndrome
|
SERAC1
|
3-MGCA type IV
|
|
Costeff Syndrome
|
OPA3
|
3-MGCA type III
|
|
|
TMEM70
|
3-MGCA type IV
|
|
DCMA Syndrome
|
DNAJC19
|
3-MGCA type V
|
|
NOS 3-MGA-uria
|
unknown
|
3-MGCA type IV
|
3-methylglutaconyl-CoA hydratase deficiency is primary 3-MGCA while the others are secondary.
