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Orphanet classification of rare inborn errors of metabolism

Rare inborn errors of metabolism ORPHA:68367
- Disorder of energy metabolism ORPHA:79200
  - Mitochondrial disease ORPHA:68380
    - Unspecified mitochondrial disorder ORPHA:254837
      - Autosomal dominant optic atrophy ORPHA:98672
      - Ethylmalonic encephalopathy ORPHA:51188
      - Histiocytoid cardiomyopathy ORPHA:137675
      - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
      - Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
      - Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
      - X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802

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