Menkes disease (kinky or steely hair disease)

Introduction

Compare with Wilson's disease (hepato-lenticular degeneration). A congenital metabolic defect.

Pathology

• abnormally low levels of copper in the liver & brain
• higher than normal levels in the kidney & intestine
• extensive neurodegeneration in gray matter of the brain; cerebral & cerebellar degeneration
• cerebral arteries may malformed resulting hemorrhage or thrombosis
• connective-tissue disturbances
• osteoporosis may result in fractures

Genetics

• X-linked recessive
• associates with defects in ATP7A

Clinical manifestations

• premature birth
• symptoms appear during infancy
• development may be normal-slightly for 2 to 3 months, with subsequent marked developmental delay
• failure to thrive
• short, sparse, poorly pigmented kinky hair
• physical & mental retardation
• progressive severe deterioration of the brain
• hypothermia
• hypopigmentation
• cutis laxa
• vascular complications
• death in early childhood

Management

• copper supplement SC or IV may be of some benefit
• other treatment is symptomatic & supportive
• prognosis is poor
  • most children die within the first decade of life

More general terms

• metabolic brain disease
• inborn error of copper metabolism

More specific terms

• Menke's disease/ATP7A mutation associated

Additional terms

• copper transporting ATPase-1; copper pump-1; Cu+2-transporting ATPase alpha polypeptide; Menke's disease-associated protein (ATP7A, MNK)
• hepatolenticular degeneration; Wilson's disease

Patient information

Menkes disease patient information

Database

• OMIM: https://mirror.omim.org/entry/309400