Coenzyme Q deficiency

From Ganfyd

• Autosomal recessive disorder in which the CoQ deficiency may be secondary
• Phenotypes:
  1. myopathic form
  2. severe infantile neurological syndrome associated with nephritic syndrome
  3. Ataxia-oculomotor apraxia syndrome
  4. Leigh syndrome
  5. Pure myopathic form

Primary Associations

• Aprataxin - APTX gene mutations at 9p13.3 (ataxia-oculomotor apraxia syndrome) - commonest
  • Peripheral axonal neuropathy
  • Oculomotor apraxia (limitation of ocular movements on command)
  • Hypoalbuminaemia
• COQ2, or parahydroxybenzoate-polyprenyltransferase mutations at 4q21-q22
• Decaprenyl diphosphate synthase mutations at 6q21 eg DPS1(PDSS1) or DLP1 (PDSS2) - Leigh syndrome with severe PDSS2

Secondary associations

see Mitochondrial diseases

• Human complex I (NADH-ubiquinone reductase) deficiency at 1q23, 11q13, 5q12.1, 5q11.1, 5pter-p15.33, 2q33-q34
• Mitochondrial complex II (succinate dehydrogenase, succinate CoQ reductase, SDHA) deficiency at 5p15