X-linked Creatine deficiency

An X-linked disorder of creatine (Cr) transport characterized by intellectual disability, severe SPEECH DELAY, behavioral abnormalities, and SEIZURES. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment. Mutations in the SLC6A8 gene have been identified. OMIM: 300352

Also Known As:

Creatine deficiency, X-linked; CCDS1; Cerebral creatine deficiency syndrome 1; Creatine Deficiency Syndrome, X-Linked; Creatine Transporter Defect; Creatine Transporter Deficiency; Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia; Mental retardation, X-linked, with creatine transport deficiency; Slc6a8 Deficiency; Slc6a8-Related Creatine Transporter Deficiency; X-Linked Creatine Deficiency; X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency

Organic Chemicals: 133
- Amidines: 14
  - Guanidines: 29
    - Creatine: 3124
      - X-linked Creatine deficiency: 73
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Carrier Proteins: 12999
    - Membrane Transport Proteins: 589
      - Neurotransmitter Transport Proteins: 24
        Plasma Membrane Neurotransmitter Transport Proteins
        X-linked Creatine deficiency: 73
  - Membrane Proteins: 10078
    - Membrane Transport Proteins: 589
      - Neurotransmitter Transport Proteins: 24
        Plasma Membrane Neurotransmitter Transport Proteins
        X-linked Creatine deficiency: 73
- Amino Acids: 30675
  - Creatine: 3124
    - X-linked Creatine deficiency: 73
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        X-linked Creatine deficiency: 73
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        X-linked Creatine deficiency: 73
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - X-linked Creatine deficiency: 73
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - X-linked Creatine deficiency: 73
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - X-linked Creatine deficiency: 73
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - X-linked Creatine deficiency: 73
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - X-linked Creatine deficiency: 73

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