Menke syndrome

external

• Causes

  • ATP7A gene mutation

• Effects

  • Corkscrew hair
  • Coarse skin
  • Bony spurs
  • Seizure

• Parents

  • X-Linked recessive congenital metabolic disease
  • Neurodegenerative disorder

• Description

  • "Derangement in copper Transport. Low copper levels. Deficiency in copper dependant mitochondrial enzymes. Fatal within the first few years of life. ATP7A gene located on X chromosome "