Menkes Disease Melissa Apostolidis

AKA KINKY HAIR DISEASE Brittle, kinky (monamide oxidase) Hair on infants is short, sparse, coarse, and twisted Hair is lightly pigmented: gray, white, silver Twisted strands resemble steel wool cleaning pads Eyebrows have a similar appearance

Prognosis is poor: most affected will die within the first decade of life Symptoms usually appear at birth or in early childhood Age of onset: first months of life

Quick facts In the US, Menkes is a rare condition with incidence estimates ranging from 1 case per 100,000 live births to 1 case in 250,000. Annual births in the United States (approximately 3.9 million), an estimated infants with Menkes are expected to be born each year.

What causes Menkes? A mutation in a gene coding for a copper transport protein Menkes Cu ATPase. Since copper cannot be transported across the membrane of the intestine, the copper builds up inside the intestinal cells. The copper is not distributed into the blood stream and the rest of the body.

The protein normally functions by moving copper from the intestinal mucosa cells into the bloodsteam. It is bound by proteins like albumin and transported to organs and tissues. Copper–histidine. In the most efficacious treatment for Menkes disease, two histidine molecules coordinate around a copper atom.

Effects MMMMutations block the function and the copper does not leave the mucosa cells. BBBBecause the defective gene is expressed in all other tissues except the liver, the accumulation of copper is throughout the body except in the liver. Abnormal Purkinje cell dendrites in the brain of a patient with Menkes disease

The ATP7A protein responsible for Menkes disease contains several transmembrane segments and six sequences that bind copper.

Distinctive faces Chubby, rosy, sagging cheeks Chubby, rosy, sagging cheeks Depressed nasal bridge Depressed nasal bridge Expressionless face Expressionless face Large ears Large ears Menkes kinky hair disease in an 8- month-old male infant. He has abnormal hair, eyelid ptosis, and jowly facial appearance.

More Pics… Adolescent patient. Note elbow dislocations and genu valgum. Radiographs exhibited bilateral occipital exostoses of the skull and club-shaped distal clavicles. The palate tends to be high-arched, and tooth eruption is delayed. Noisy sonorous breathing is often evident. Chest deformity is a common thoracic finding. The skin often appears loose and redundant, particularly at the nape of the neck and on the trunk.

And more pics.. Four-month-old patient with classic Menkes disease. His hair is depigmented and lusterless with pili torti and the skin is pale with eczema. Diverticula of the bladder in a boy with Menkes disease. Flared metaphyses of the ulna and radius in a 5-month-old patient with classic Menkes disease.

The clavicles are short with hammer-shaped distal ends in a patient with Menkes disease. Magnetic resonance imaging of the brain of a patient with Menkes disease. Subdural effusion is evident in the left frontal lesion. Brain atrophy is also evident.

Other symptoms Hypothermia (high temperatures) Hypothermia (high temperatures) Seizures Seizures Motor development delay Motor development delay Severe mental retardation Severe mental retardation Progressive neurological deterioration- brain atrophy Progressive neurological deterioration- brain atrophy Weakened bones Weakened bones Death between ages of 2 and 13 Death between ages of 2 and 13 Recurrent respiratory and urinary tract infections are common Recurrent respiratory and urinary tract infections are common

X-linked recessive trait Located on Xq13.2 Because Menkes Disease is X- linked, it is mostly found in males. Female carriers generally do not manifest symptoms unless unusual genetic circumstances are present.

Treatment Although Menkes disease is fatal and there is no cure yet, there are treatments to help prolong and enhance life. Symptomatic and supportive treatment is always beneficial

Copper Therapy Copper can be injected on brain and nerve development in people suffering from Menkes. Copper therapy does not benefit patients with severe cases. Treatment can begin before birth, mothers with infected babies can receive injections under the skin.

RESEARCH!! A similar disease is found in mice. These model organisms will help give insight into finding a cure for Menkes. The NINDS supports research on this disease in hopes to prevent, treat, and cure Menkes.

Reach Out Offers a parent and professional network that provides support and referrals for Menkes disease families. Corporation for Menkes Disease 5720 Buckfield Ct. Fort Wayne, IN (219) On-line web pages dedicated to people suffering from this disease National Organization for Rare Disorders P.O.Box Kenoisa Ave. Danbury, CT