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


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