Cerebral creatine deficiency syndrome Disease

About Gene:

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in the transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. It is comprised of three disorders. Two of them have defects in creatine biosynthesis and the third one has a defect in the biotransport of creatine. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc.

Number of Patients: 1

Disease Causing Genes:

GAMT KL MECP2 MAPT APOE SLC6A8 APP MTHFR CRP IGF1 TNF HIF1A LEP SLCO1B1 ACE SLC6A4 PPARG PSEN1 TNNT2 IL6

Sign and Symptoms:

  1. Hyperactive disorder
  2. Behavioural disorder
  3. Epileptic seizure
  4. Development delay
  5. movement disorder
  6. severe expressive speech delays

Diagnosis:

(1) Medical history collection (2) MRI of the brain (3) EEG (4) Genetic testing

Preventions:

Once identified in an affected family member, molecular genetic testing to identify female heterozygotes and prenatal and preimplantation genetic testing can help detect carriers and future chances of infection.

Treatment:

Treated with oral creatine monohydrate to replenish cerebral creatine levels and various antiepileptic drugs: vigabatrin, topiramate, sodium valproate, levetiracetam, clonazepam, etc. Also supplemented with glycine, L-arginine, and creatine monohydrate and offered physiotherapy, occupational therapy, and speech therapy.