Adrenoleukodystrophy

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Also Known As:

Adrenoleukodystrophy, X-Linked; Adrenomyeloneuropathy; X-Linked Adrenoleukodystrophy; ALD (Adrenoleukodystrophy); Addison Disease and Cerebral Sclerosis; Bronze Schilder Disease; Melanodermic Leukodystrophy; Siemerling-Creutzfeldt Disease; X-ALD; X-ALD (X-Linked Adrenoleukodystrophy); Leukodystrophies, Melanodermic; Leukodystrophy, Melanodermic; Schilder Addison Complex; Siemerling Creutzfeldt Disease; X ALD; X ALD (X Linked Adrenoleukodystrophy); X Linked Adrenoleukodystrophy; Schilder-Addison Complex

Nervous System Diseases: 14737
- Demyelinating Diseases: 9340
  - Hereditary Central Nervous System Demyelinating Diseases
    - Adrenoleukodystrophy: 1203
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Adrenoleukodystrophy: 1203
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Leukoencephalopathies: 1594
      - Hereditary Central Nervous System Demyelinating Diseases
        Adrenoleukodystrophy: 1203
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Adrenoleukodystrophy: 1203
        Hereditary Central Nervous System Demyelinating Diseases
        Adrenoleukodystrophy: 1203
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Peroxisomal Disorders: 509
      - Adrenoleukodystrophy: 1203
    - Inborn Metabolic Brain Diseases: 2
      - Adrenoleukodystrophy: 1203
      - Hereditary Central Nervous System Demyelinating Diseases
        Adrenoleukodystrophy: 1203
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Adrenoleukodystrophy: 1203
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Adrenoleukodystrophy: 1203
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Peroxisomal Disorders: 509
      - Adrenoleukodystrophy: 1203
    - Inborn Metabolic Brain Diseases: 2
      - Adrenoleukodystrophy: 1203
      - Hereditary Central Nervous System Demyelinating Diseases
        Adrenoleukodystrophy: 1203
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Adrenoleukodystrophy: 1203
      - Hereditary Central Nervous System Demyelinating Diseases
        Adrenoleukodystrophy: 1203
Endocrine System Diseases: 996
- Adrenal Gland Diseases: 25
  - Adrenal Insufficiency: 4037
    - Adrenoleukodystrophy: 1203

Itziar Martín-Ugarte Selected Research

Itziar Martín-Ugarte Research Topics

Disease

Drug/Important Bio-Agent (IBA)