Menkes Disease

By Abbey Thomas
History of Menkes - Menkes Disease was first identified sheep in
1937 by Australian vets who noticed the
Disease symptoms in grazing animals
- Experiment: pregnant lambs eat
copper deficient grasses, and the
symptoms of Menkes was seen in
their offspring
- Menkes Disease was identified in humans in
1962, by John Hans Menkes
Symptoms of - Infants are born normal, symptoms show
within a 2-3 months
Menkes Disease - Symptoms include:
- Hypotonia
- Sagging facial features
- Seizures
- Intellectual Disability
- Developmental Delays
- Subnormal body temperatures
- The most well known characteristic of this
disease is brittle, color-less hair

Under the microscope.

Hair is twisted, not straight
 Cause of Menkes -
-
X linked recessive trait
Mutation on the ATP7A gene, located on
chromosome X, at Xq21.1
- Mutation in ATP7A gene: copper is not
absorbed and distributed well to cells
- Copper then builds up in tissues in the
kidneys and small intestine, since it
cannot be absorbed
- Brain is deprived
- Decreases the activity of certain enzymes,
that are necessary for the structure of:
- Bone
ATP7A Protein
- Skin
- Hair
- Nervous system
- Blood vessels
Treatments for -
-
There is no cure in Menkes
Copper injections, injected into body to
Menkes -
avoid the GI, can have slight benefit
Treatment is often about lessening
symptoms:
- Pain medication
- Anti-Seizure medication
- Feeding tubes
- Physical and Occupation therapy
- Expected lifespan is under 10 years, but with
medication it can extended to 13+
Identification / - Testing blood for copper and ceruloplasmin
levels
Diagnosis -
-
Skin biopsy
Microscopic examination of hair to see if
Menkes abnormality is present
- 70% of cases are inherited, so genetic
testing on mother can show if infant will
have Menkes
Bioethical - Is it ethical to give copper replacement therapy
to infants, even though it will only have slight

Considerations -
benefits and be uncomfortable for the infants?
How long should the duration of treatment be?
- Should infants go through therapies that are still
in clinical trials?
First generation: Tenth generation:
p=.99684 p=1
q=.00316 q=0

Harvey-Weinberg Equation for Menkes Disease in Males - 1:100000 births

 First generation: Tenth generation:
p=.998 p=1
q=.002 q=0

Harvey-Weinberg Equation for Menkes Disease in Females - 1:250000 births

Works Cited “Genetics of Menkes Kinky Hair Disease.” Background,

Pathophysiology, Epidemiology, 30 Mar. 2017,

emedicine.medscape.com/article/946985-overview.
Links to spreadsheets:
https://docs.google.com/spreadsheets/d/14uPw7RBb3Z
fMO6OIPIBniyK0k_cgm2XqPu0ne3xdt-4/edit#gid=0

https://docs.google.com/spreadsheets/d/1MK2EtD0YEB
“Menkes Disease.” Genetic and Rare Diseases Information Center,
HtR1bUneh7gQrzXDy5J9JE6O1Yc2U-xvE/edit#gid=0

U.S. Department of Health and Human Services,

rarediseases.info.nih.gov/diseases/1521/menkes-disease.

“Menkes Disease.” Wikipedia, Wikimedia Foundation, 28 Feb.

2018, en.wikipedia.org/wiki/Menkes_disease.