How is the Menkes disease diagnosed?
Physical examination: Newborns with classic Menkes syndrome can have normal face and hair at birth. Based on the disease severity, the symptoms of severe form of MNK can usually appear after 2 or 3 months, while the milder types present symptoms during mid- childhood. Female carriers with a defective gene may or may not present with twisted hair.
It can be detected early by a urine screen test that determines the homovanillic acid/vanillylmandelic acid ratio
Serum investigations reveal raised levels of copper and ceruloplasmin in blood in children older than 6 weeks; raised Catechol levels in cerebrospinal fluid (CSF) and blood at birth.
Newborns can be diagnosed by detecting the high copper levels in the placenta
Copper metabolism can be confirmed by a skin biopsy test
Menkes abnormalities can be detected with a microscopic hair examination
What is the treatment for Menkes disease?
Menkes disease should be treated early to have a better prognosis even if it begins during early infancy. It is usually treated with the daily administration of copper via injections. Other treatment options are supportive and symptomatic. Early therapy includes administration of copper supplements in the form of acetate salts through an intravenous or subcutaneous injection. The primary treatment protocol includes oral administration of copper salts in the form of acetate, sulfate, or chloride in an effort to restore the normal copper and ceruloplasmin levels.
Neurological symptoms can be prevented in affected fetuses and newborns by an in-utero treatment with copper histidine. Seizures and hair or skin manifestations can be treated with subcutaneous copper supplementation for the duration of about 2.5 years. Serum and CSF copper levels can improve with 350-500 ug/d or qod intravenous or subcutaneous copper chloride and L-histidine solutions. However, impaired bone mineralization and connective-tissue defects cannot still be corrected.
Copper administration via parenteral route stimulates the production of WND gene and apoceruloplasmin thus elevating the serum copper and ceruloplasmin levels. Moreover, cerebral improvement may not be evident due to the subnormal cerebral copper levels.
Genetic counseling is recommended for families with a MNK affected child as a preventive measure. In addition, future pregnancies often require mandatory prenatal testing.