Menkes' syndrome: an updated review

Area of Science:

• Genetics and Metabolism
• Pediatric Multisystem Disorders

Background:

• Menkes syndrome is an X-linked recessive disorder typically fatal before age five.
• Previously considered a copper deficiency disorder, it is now recognized as a copper storage disease.
• Defects stem from inappropriate systemic copper distribution, potentially linked to metallothionein metabolism.

Purpose of the Study:

• To review clinical and pathological findings of Menkes syndrome.
• To describe abnormalities in copper and metallothionein metabolism in affected infants.

Main Methods:

• Literature review of clinical and pathological data.
• Analysis of metabolic studies on copper and metallothionein.

Main Results:

• Menkes syndrome involves systemic copper dysregulation, not simple deficiency.
• Metallothionein, crucial for copper transport, may be central to the metabolic defect.
• Infants exhibit specific abnormalities in copper and metallothionein metabolism.

Conclusions:

• Menkes syndrome is a complex copper metabolism disorder.
• Understanding metallothionein's role is key to unraveling the syndrome's pathology.
• Further research into copper distribution defects is warranted.