Transcript Menkes - Welcome to Cherokee High School

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?
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


Abnormal Purkinje cell dendrites in the brain
of a patient with Menkes disease
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.
The ATP7A protein responsible
for Menkes disease contains
several transmembrane
segments and six sequences
that bind copper.
Distinctive faces




Chubby, rosy,
sagging cheeks
Depressed nasal
bridge
Expressionless face
Large ears
Menkes kinky hair disease in an 8month-old male infant. He has abnormal
hair, eyelid ptosis, and jowly facial
appearance.
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.
And more pics..
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.
Four-month-old patient
with classic Menkes
disease. His hair is
depigmented and
lusterless with pili torti
and the skin is pale with
eczema.
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)
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





X-linked recessive trait
Located on Xq13.2
Because Menkes Disease is Xlinked, 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
Corporation for Menkes Disease
5720 Buckfield Ct.
Fort Wayne, IN 46804
(219) 436-0137
National Organization for Rare
Disorders
Offers a parent and
professional network that
provides support and
referrals for Menkes
disease families.
P.O.Box 1986
55 Kenoisa Ave.
Danbury, CT 06813-1986
On-line web pages
dedicated to people
suffering from this
disease