ATPase synthase deficiency; ATPase deficiency; ATPAF2 deficiency

Pathology

• enlarged liver
• hypoplastic kidneys

Genetics

• cause by defects in ATPAF2 gene

Clinical manifestations

• early presentation
• dysmorphic features
  • large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet, flexion contractures of the limbs, camptodactyly
• hypertonia

Laboratory

• lactic acidosis
  • elevated serum lactate, urine lactate, CSF lactate
• methyl glutaconic aciduria

More general terms

• inborn error of metabolism

Additional terms

• ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog (ATPAF2, ATP12, LP3663)

Database

• OMIM: https://mirror.omim.org/entry/604273