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 16-40 infants with Menkes are expected to be born each year.

What causes Menkes?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 The protein normally functions by moving copper from the intestinal mucosa cells into the from the intestinal mucosa cells into the

bloodsteam. It is bound by proteins like albumin bloodsteam. It is bound by proteins like albumin and transported to organs and tissues. and transported to organs and tissues.

Copper–histidine. In the most efficacious treatment for Menkes disease, two histidine molecules coordinate around a copper atom.

EffectsEffects

Mutations block the function Mutations block the function and the copper does not leave and the copper does not leave the mucosa cells.the mucosa cells.

Because the defective gene is Because the defective gene is expressed in all other tissues expressed in all other tissues except the liver, the except the liver, the accumulation of copper is accumulation of copper is throughout the body except in throughout the body except in the liver.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 facesDistinctive faces Chubby, rosy, Chubby, rosy,

sagging cheekssagging cheeks Depressed Depressed

nasal bridgenasal bridge Expressionless Expressionless

faceface Large earsLarge 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..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 symptomsOther symptoms

Hypothermia (high temperatures)Hypothermia (high temperatures) SeizuresSeizures Motor development delayMotor development delay Severe mental retardationSevere mental retardation Progressive neurological deterioration- Progressive neurological deterioration-

brain atrophybrain atrophy Weakened bonesWeakened bones Death between ages of 2 and 13Death between ages of 2 and 13 Recurrent respiratory and urinary tract Recurrent respiratory and urinary tract

infections are commoninfections 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 TherapyCopper Therapy

Copper can be injected Copper can be injected on brain and nerve on brain and nerve

development in development in people suffering from people suffering from

Menkes.Menkes.Copper therapy does not Copper therapy does not

benefit patients with benefit patients with severe cases.severe cases.

Treatment can begin Treatment can begin before birth, mothers before birth, mothers with infected babies with infected babies

can receive injections can receive injections under the skin.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 Disease5720 Buckfield Ct.

Fort Wayne, IN 46804(219) 436-0137

On-line web pages dedicated to people suffering from this

disease

National Organization for Rare Disorders

P.O.Box 1986

55 Kenoisa Ave.

Danbury, CT 06813-1986