AGAT deficiency
= AGAT Deficiency =
AGAT deficiency, also known as L-arginine:glycine amidinotransferase deficiency, is a rare genetic disorder that affects the body's ability to produce creatine. Creatine is essential for energy storage and utilization in muscle and brain tissues. This condition is part of a group of disorders known as cerebral creatine deficiency syndromes.
Causes[edit | edit source]
AGAT deficiency is caused by mutations in the GATM gene, which provides instructions for making the enzyme L-arginine:glycine amidinotransferase (AGAT). This enzyme is crucial in the first step of creatine synthesis, converting arginine and glycine into guanidinoacetate, which is then converted into creatine.
Symptoms[edit | edit source]
Individuals with AGAT deficiency typically present with:
- Developmental delay
- Intellectual disability
- Speech delay
- Muscle weakness
- Seizures
The severity of symptoms can vary, but they generally appear in early childhood.
Diagnosis[edit | edit source]
Diagnosis of AGAT deficiency involves:
- Measuring creatine and guanidinoacetate levels in urine and blood
- Genetic testing to identify mutations in the GATM gene
- Magnetic resonance spectroscopy (MRS) to detect low creatine levels in the brain
Treatment[edit | edit source]
Treatment for AGAT deficiency focuses on creatine supplementation. Oral creatine monohydrate can help replenish creatine levels in the brain and muscles, improving symptoms such as muscle weakness and developmental delays.
Prognosis[edit | edit source]
With early diagnosis and treatment, individuals with AGAT deficiency can experience significant improvements in symptoms. However, some cognitive and developmental challenges may persist.
Research[edit | edit source]
Ongoing research aims to better understand the genetic mechanisms of AGAT deficiency and to develop more effective treatments. Studies are also exploring the potential of gene therapy as a future treatment option.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
AGAT deficiency is a rare disease.
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