NADH cytochrome B5 reductase deficiency

Overview

NADH cytochrome B5 reductase deficiency: A very rare syndrome caused by a genetic anomaly resulting in an enzyme deficiency (NADH cytochrome B5 reductase)

Symptoms Hide

  • Methemoglobinemia
  • Mental deficiency
  • Cyanosis from birth
  • Athetosis
  • Small head
  • Strabismus
  • Digestive problems
  • Swallowing difficulty
  • Hypotrophy

Causes Hide

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