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Menkes Disease
BY
ABHISHEKJAGUESSAR
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AKA KINKY HAIR DISEASE
Brittle, kinky (monamide
oxidase)
Hair on infants is short,
sparse, coarse, andtwisted
Hair is lightly pigmented:
gray, white, silver
Twisted strands resemblesteel 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: firstmonths 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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The protein normally functions by moving copperThe protein normally functions by moving copper
from the intestinal mucosa cells into thefrom the intestinal mucosa cells into the
bloodsteam. It is bound by proteins like albuminbloodsteam. It is bound by proteins like albuminand transported to organs and tissues.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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EffectsEffects
Mutations block the functionMutations block the functionand the copper does not leaveand the copper does not leavethe mucosa cells.the mucosa cells.
Because the defective gene isBecause the defective gene isexpressed in all other tissuesexpressed in all other tissuesexcept the liver, theexcept the liver, theaccumulation of copper isaccumulation of copper isthroughout the body except inthroughout the body except in
the liver.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 containsseveral transmembrane
segments and six sequencesthat bind copper.
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Distinctive facesDistinctive faces
Chubby, rosy,Chubby, rosy,
sagging cheekssagging cheeks
Depressed nasalDepressed nasal
bridgebridge
Expressionless faceExpressionless face
Large earsLarge 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
Adolescent patient. Note elbow dislocations
and genu valgum. Radiographs exhibitedbilateral 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.
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And more pics..And more pics..Four-month-old patientwith 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 ulnaand radius in a 5-month-old
patient with classic Menkes
disease.
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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 isalso evident.
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Other symptomsOther symptoms
Hypothermia (high temperatures)Hypothermia (high temperatures) SeizuresSeizures Motor development delayMotor development delay
Severe mental retardationSevere mental retardation Progressive neurological deteriorationProgressive neurological deterioration-- brainbrain
atrophyatrophy Weakened bonesWeakened bones
Death between ages of 2 and 13Death between ages of 2 and 13 Recurrent respiratory and urinary tract infectionsRecurrent respiratory and urinary tract infections
are commonare 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 unusualgenetic circumstances are
present.
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Treatment
Although Menkesdisease is fatal andthere is no cure yet,
there are treatmentsto help prolong and
enhance life.
Symptomatic and
supportive treatmentis always beneficial
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Copper TherapyCopper Therapy
Copper can be injected onCopper can be injected onbrain and nervebrain and nerve
development in peopledevelopment in peoplesuffering from Menkes.suffering from Menkes.
Copper therapy does notCopper therapy does notbenefit patients withbenefit patients with
severe cases.severe cases.
Treatment can begin beforeTreatment can begin before
birth, mothers withbirth, mothers withinfected babies caninfected babies canreceive injections underreceive injections under
the skin.the skin.
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RESEARCH!!
A similar disease is found
in mice.
These model organisms
will help give insight intofinding a cure for Menkes.
The NINDS supports
research on this disease
in hopes to prevent, treat,and cure Menkes.
