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History

John Menkes

1962

Identified by

John Menkes

1992

ATP7A discovered by Vulpe et Al.

2015

Conclusion of experimental Copper Histidine therapy

John Hans Menkes was a pediatric neurologist, born in Vienna, Austria, in 1928. Following the German annexation of Austria, Menkes immigrated to the United States with his family in 1939 at the age of 11 years. He completed high school in California and subsequently earned undergraduate and graduate degrees in organic chemistry at the University of Southern California. Although he held a passion for writing and journalism, Menkes ultimately decided to follow the family tradition of studying medicine.¹ Following a pediatric neurology residency at Columbia-Presbyterian Medical Center in New York, Menkes went to the University of California, Los Angeles, where he spent the rest of his life advancing the field of pediatric neurology and having an impact on the fields of genetics and dermatology.

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Causes

ATP7A

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Symptoms

Brittle hair/Abnormal hair color
Sagging facial features
Hypotonia
Hypothermia
Hyperbilirubinemia
Osteoporosis
Neurodegeneration/Seizures

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Treatments

No cure
Approved Investigational Treatment:�Copper-Histidine injections (Phase 3)

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Related Disorders

Occipital Horn Syndrome (milder form)
Wilson Disease (affects ATP7B)

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Ethics

Should the government pay for expensive and possibly futile treatment for very rare genetic disorders like Menkes Disease?

Should abortions be decided/allowed after prenatal testing determines the presence of Menkes Disease?

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Simulation

Calculations for Menkes Disease (sex-linked recessive):

Frequency: 1/100000 = 0.000001

q = 0.000001

p = 1 - 0.000001 = 0.999999

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Works Cited

Hussain, Dr Asma Arif. “Menkes Syndrome: A Case Report.” Journal of Medical Science And Clinical Research, vol. 6, no. 4, 2018, doi:10.18535/jmscr/v6i4.190.

“Menkes Disease.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/menkes-disease/.

“Menkes Syndrome - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/menkes-syndrome.

MENKES, J H, et al. “A Sex-Linked Recessive Disorder with Retardation of Growth, Peculiar Hair, and Focal Cerebral and Cerebellar Degeneration.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, May 1962, www.ncbi.nlm.nih.gov/pubmed/14472668.

Menkes, John H. “Menkes Disease and Wilson Disease: Two Sides of the Same Copper Coin Part 1: Menkes Disease.” European Journal of Paediatric Neurology, vol. 3, no. 4, 1999, pp. 147–158., doi:10.1016/s1090-3798(99)90048-x.

Vulpe, C, et al. “Isolation of a Candidate Gene for Menkes Disease and Evidence That It Encodes a Copper-Transporting ATPase.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, Jan. 1993, www.ncbi.nlm.nih.gov/pubmed/8490659.

Zaffanello, Marco, et al. “Urological Complications and Copper Replacement Therapy in Childhood Menkes Syndrome.” Acta Paediatrica, vol. 95, no. 7, 2007, pp. 785–790., doi:10.1111/j.1651-2227.2006.tb02341.x.

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