Menkes Disease

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Menkes Disease
Melissa Apostolidis
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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

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• 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

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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.

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

• Mutations block the function and the copper does
  not leave the mucosa cells.
• 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
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The ATP7A protein responsible for Menkes disease
contains several transmembrane segments and six
sequences that bind copper.
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Distinctive faces

• Chubby, rosy, sagging cheeks
• Depressed nasal bridge
• Expressionless face
• Large ears

Menkes kinky hair disease in an 8-month-old male
infant. He has abnormal hair, eyelid ptosis, and
jowly facial appearance.
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More Pics

• 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.

Adolescent patient. Note elbow dislocations and
genu valgum. Radiographs exhibited bilateral
occipital exostoses of the skull and club-shaped
distal clavicles.
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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.
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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.
The clavicles are short with hammer-shaped distal
ends in a patient with Menkes disease.
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Other symptoms

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

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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.
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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

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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.

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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.

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Reach Out
Corporation for Menkes Disease 5720 Buckfield
Ct. Fort Wayne, IN 46804 [phone]
National Organization for Rare Disorders P.O.Box
1986 55 Kenoisa Ave. Danbury, CT 06813-1986

• Offers a parent and professional network that
  provides support and referrals for Menkes disease
  families.

On-line web pages dedicated to people suffering
from this disease