Menkes Kinky Hair Syndrome

An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

Also Known As:

Menkes Disease; Kinky Hair Syndrome; Hypocupremia, Congenital; Menkes Syndrome; Steely Hair Syndrome; Congenital Hypocupremia; Copper Transport Disease; Kinky Hair Disease; Menkea Syndrome; Menkes' Disease; Steely Hair Disease; X-Linked Copper Deficiency; Congenital Hypocupremias; Copper Deficiencies, X-Linked; Copper Deficiency, X-Linked; Copper Transport Diseases; Deficiencies, X-Linked Copper; Deficiency, X-Linked Copper; Disease, Copper Transport; Disease, Steely Hair; Diseases, Copper Transport; Diseases, Kinky Hair; Diseases, Menkes'; Diseases, Steely Hair; Hair Diseases, Kinky; Hair Diseases, Steely; Hypocupremias, Congenital; Kinky Hair Diseases; Menkea Syndromes; Menkes' Diseases; Steely Hair Diseases; Steely Hair Syndromes; Syndrome, Menkea; Syndrome, Steely Hair; Syndromes, Menkea; Syndromes, Steely Hair; Transport Disease, Copper; Transport Diseases, Copper; X Linked Copper Deficiency; X-Linked Copper Deficiencies

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Menkes Kinky Hair Syndrome: 737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Menkes Kinky Hair Syndrome: 737
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Menkes Kinky Hair Syndrome: 737
    - Inborn Errors Metal Metabolism
      - Menkes Kinky Hair Syndrome: 737
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Menkes Kinky Hair Syndrome: 737
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Menkes Kinky Hair Syndrome: 737
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Hair Diseases: 37
    - Menkes Kinky Hair Syndrome: 737
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Menkes Kinky Hair Syndrome: 737
    - Inborn Errors Metal Metabolism
      - Menkes Kinky Hair Syndrome: 737
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Menkes Kinky Hair Syndrome: 737

Jacquelyn C Greenfield Selected Research

Jacquelyn C Greenfield Research Topics

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