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ATPase synthase deficiency; ATPase deficiency; ATPAF2 deficiency

Pathology: 1) enlarged liver 2) hypoplastic kidneys Genetics: - cause by defects in ATPAF2 gene Clinical manifestations: 1) early presentation 2) dysmorphic features - large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet, flexion contractures of the limbs, camptodactyly 3) hypertonia Laboratory: 1) lactic acidosis - elevated serum lactate, urine lactate, CSF lactate 2) methyl glutaconic aciduria

Related

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

General

inborn error of metabolism

Database Correlations

OMIM 604273

References

  1. OMIM :accession 604273
  2. UniProt :accession Q8N5M1