AUH-Related 3-Methylglutaconic Aciduria is a rare disorder that affects mitochondrial function.
Former designation: 3-MGCA-1
Chromosome: 9q22.31
Gene: AUH (AU RNA binding methylglutaconyl-CoA hydratase)
Enzyme affected: 3-methylglutaconyl-CoA hydratase (3-MGCH)
Location: mitochondrial matrix and inner mitochondrial membrane
Effect of mutation: unable to catabolize leucine
Inheritance: autosomal recessive
Key clinical findings:
(1) speech and language delay
(2) failure to thrive
(3) microcephaly
(4) psychomotor retardation
(5) adult-onset leukoencephalopathy
(6) dementia
(7) progressive spasticity and dystonia
(8) urine excretion of 3-methylglutaconic acid (3-MGA) and 3-methylglutaconate (3-MGC)
Variable findings:
(1) metabolic acidosis
(2) hypoglycemia
(3) seizures
