TMEM70-related 3-Methylglutaconic Aciduria is an uncommon disorder that affects mitochondrial function.
Former designation: 3-MGCA-4 (shared designation with SERAC1 defect)
Chromosome: 8q21.11
Gene: TMEM70 (transmembrane protein 70)
The transcribed protein is located on the inner mitochondrial membrane.
Impacts ATP synthase.
Inheritance: autosomal recessive
Clinical findings are highly variable:
(1) hypertrophic cardiomyopathy
(2) myopathy with hypotonia
(3) dysmorphic facial features
(4) cataracts
(5) developmental delay
(6) short stature
(7) microcephaly
Variable findings:
(1) hypospadias in males
(2) persistent pulmonary hypertension of the newborn
(3) Wolff-Parkinson-White syndrome
Laboratory findings:
(1) lactic acidosis
(2) hyperammonemia during metabolic crises
(3) 3-methylglutaconic aciduria
