Guanidinoacetate methyltransferase deficiency (GAMT).
Study Goal
The researchers aimed to evaluate the effectiveness of a low-protein diet combined with creatine supplementation in treating symptoms of GAMT deficiency, particularly epileptic seizures and movement disorders.
Results Summary
The study found that a low-protein diet with restricted arginine and increased ornithine, alongside creatine supplementation, improved symptoms of GAMT deficiency, especially epileptic seizures and abnormal movements.
Population
Patients with GAMT deficiency, an autosomal recessive metabolic disorder.
Effective Dosage
Not specified
Duration
Not specified
Interactions
None mentioned
| Intervention | Direction | Endpoint | Population | Dosage | Impact | Claim # |
|---|---|---|---|---|---|---|
creatine supplementation orally | decrease | symptoms | patients with GAMT deficiency | - | results in improvement | #1 |
creatine supplementation orally | decrease | epileptic seizures | patients with GAMT deficiency | - | results in improvement | #2 |
creatine supplementation orally | decrease | abnormal movements | patients with GAMT deficiency | - | results in improvement | #3 |
low-protein diet with restricted arginine and increased ornithine | decrease | symptoms | patients with GAMT deficiency | - | results in improvement | #4 |
low-protein diet with restricted arginine and increased ornithine | decrease | epileptic seizures | patients with GAMT deficiency | - | results in improvement | #5 |
low-protein diet with restricted arginine and increased ornithine | decrease | abnormal movements | patients with GAMT deficiency | - | results in improvement | #6 |
An increasing number of disorders of metabolism are becoming amenable to the treatment, and GAMT deficiency is one of them. The symptoms and signs are reviewed, emphasising that delayed language development is a particular feature. Other symptoms include learning disorders, autistic behaviour, epileptic seizures, and movement disorders. The condition is inherited in an autosomal recessive manner, and mutations in the GAMT gene severely affect the activity of guanidinoacetate. The MRI scan shows an increased signal in the globus pallidus, and the diagnosis is confirmed by finding increased guanidinoacetate in the urine and a low plasma creatine. Other methods of diagnosis are discussed. Treatment is based on giving creatine supplementation orally and a low-protein diet with restricted arginine and increased ornithine. This results in improvement of many of the symptoms, especially of the epileptic seizures and the abnormal movements. It is justifiable to consider this condition in any patient with unexplained learning disorders.