Menkes disease

（重定向自Menkes kinky hair syndrome）

Image shows the phenotypic appearance of the baby – the characteristics steel fuzzy sparse hair, fair complexion, The chubby cheeks, irritable baby

Microscopic examination of hair, revealing classical sign of pili torti. From Datta et al., 2008.

Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. The onset of Menkes disease typically begins during infancy, affecting about 1 in 100,000 to 250,000 newborns. Infants with MNK syndrome often do not live past the age of 3. It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. In order for females to develop the disorder they would need to express two copies of the gene, one on each X chromosome to develop the disorder. MNK is characterized by kinky hair, growth failure, and deterioration of the nervous system. It is caused by mutations in the copper transport gene, ATP7A, which is responsible for making a protein that is important for regulating the copper levels in the body.

单词	Menkes kinky hair syndrome
释义	Menkes kinky hair syndrome 英语百科 Menkes disease （重定向自Menkes kinky hair syndrome） Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. The onset of Menkes disease typically begins during infancy, affecting about 1 in 100,000 to 250,000 newborns. Infants with MNK syndrome often do not live past the age of 3. It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. In order for females to develop the disorder they would need to express two copies of the gene, one on each X chromosome to develop the disorder. MNK is characterized by kinky hair, growth failure, and deterioration of the nervous system. It is caused by mutations in the copper transport gene, ATP7A, which is responsible for making a protein that is important for regulating the copper levels in the body.
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