Menkes Disease and Other ATP7A Disorders

Juan M. Pascual, John H. Menkes

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Mutation of the copper ATPase ATP7A, located in the trans-Golgi network and encoded by the X chromosome, causes the progressive copper deficiency disorder Menkes disease (also known as kinky hair disease), in addition to occipital horn syndrome and ATP7A-related distal motor neuropathy. The fundamental abnormality in this disease is thus the maldistribution of copper, which is unavailable as a cofactor of several enzymes including mitochondrial cytochrome c oxidase, lysyl oxidase, superoxide dismutase, dopamine β-hydroxylase and tyrosinase. Thus, the main features of Menkes disease include mitochondrial respiratory chain dysfunction (complex IV deficiency), deficiency of collagen cross-links resulting in hair (pili torti and trichorrhexis nodosa) and vascular abnormalities (elongated cerebral vessels and subdural effusions), neuronal degeneration (markedly affecting Purkinje cells), and deficient melanin production which dominate the disease manifestations. Affected neonates present with hypothermia, feeding difficulties, and seizures. The infants are pale and exhibit kinky hair. A variety of minimally symptomatic phenotypes, including ataxia or mental retardation, have been recognized.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
PublisherElsevier Inc.
Pages455-462
Number of pages8
ISBN (Print)9780124105294, 9780124105492
DOIs
StatePublished - Nov 13 2014

Fingerprint

Menkes Kinky Hair Syndrome
Copper
Hair
Cytochrome-c Oxidase Deficiency
Subdural Effusion
Protein-Lysine 6-Oxidase
trans-Golgi Network
Monophenol Monooxygenase
Purkinje Cells
Coenzymes
Melanins
X Chromosome
Electron Transport Complex IV
Ataxia
Electron Transport
Mixed Function Oxygenases
Hypothermia
Intellectual Disability
Superoxide Dismutase
Blood Vessels

Keywords

  • Ceruloplasmin
  • Copper
  • Cytochrome
  • Kinky hair
  • Motor neuropathy
  • Occipital horn
  • P-type ATPase
  • Stroke

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Pascual, J. M., & Menkes, J. H. (2014). Menkes Disease and Other ATP7A Disorders. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition (pp. 455-462). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-410529-4.00041-3

Menkes Disease and Other ATP7A Disorders. / Pascual, Juan M.; Menkes, John H.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., 2014. p. 455-462.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pascual, JM & Menkes, JH 2014, Menkes Disease and Other ATP7A Disorders. in Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., pp. 455-462. https://doi.org/10.1016/B978-0-12-410529-4.00041-3
Pascual JM, Menkes JH. Menkes Disease and Other ATP7A Disorders. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc. 2014. p. 455-462 https://doi.org/10.1016/B978-0-12-410529-4.00041-3
Pascual, Juan M. ; Menkes, John H. / Menkes Disease and Other ATP7A Disorders. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., 2014. pp. 455-462
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AB - Mutation of the copper ATPase ATP7A, located in the trans-Golgi network and encoded by the X chromosome, causes the progressive copper deficiency disorder Menkes disease (also known as kinky hair disease), in addition to occipital horn syndrome and ATP7A-related distal motor neuropathy. The fundamental abnormality in this disease is thus the maldistribution of copper, which is unavailable as a cofactor of several enzymes including mitochondrial cytochrome c oxidase, lysyl oxidase, superoxide dismutase, dopamine β-hydroxylase and tyrosinase. Thus, the main features of Menkes disease include mitochondrial respiratory chain dysfunction (complex IV deficiency), deficiency of collagen cross-links resulting in hair (pili torti and trichorrhexis nodosa) and vascular abnormalities (elongated cerebral vessels and subdural effusions), neuronal degeneration (markedly affecting Purkinje cells), and deficient melanin production which dominate the disease manifestations. Affected neonates present with hypothermia, feeding difficulties, and seizures. The infants are pale and exhibit kinky hair. A variety of minimally symptomatic phenotypes, including ataxia or mental retardation, have been recognized.

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