Menkes syndrome
Key points
- Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
- Menkes syndrome is inherited as an X-linked recessive disorder.
- There is often a history of Menkes syndrome in a male relative.
- Seizures, abnormally light pigmentation of the skin and hair.
Alternative names
Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Definition
Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
Causes, incidence, and risk factors
Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
Symptoms
- Pudgy, rosy cheeks
- Floppy baby (hypotonia)
- Irritability
- Seizures
- Brittle, kinky hair
- Feeding difficulties
- Low body temperature
- Bone spurs
Signs and tests
There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal.
The following tests may help diagnose the condition:
- X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening)
- Serum copper level may be low
- Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level
- Serum ceruloplasmin level may be low
- Microscope examination of the hair may show breaks at regular intervals
- Plasma amino acids may show elevated glutamate
- Genetic testing may show mutation in the ATP7A gene
Treatment
Injection of copper has been used with mixed results. Present therapy consists of:
- Copper acetate administered into a vein (intravenously)
- Subcutaneous (injected under the skin) copper histidinate
Corporation for Menkes Disease5720 Buckfield CourtFort Wayne, IN 46804219-436-0137
Written and revised by
David Cohen, M.D.
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