D-Glyceric acidemia
(Redirected from Non ketotic hyperglycinemia syndrome)
D-Glyceric Acidemia[edit | edit source]
D-Glyceric Acidemia is a rare metabolic disorder characterized by the accumulation of D-glyceric acid in the body. This condition is caused by a deficiency in the enzyme glycerate kinase, which is responsible for the metabolism of D-glyceric acid. As a result, individuals with this disorder experience a range of symptoms that can vary in severity.
Pathophysiology[edit | edit source]
D-Glyceric Acidemia is an inborn error of metabolism that affects the metabolic pathway responsible for the breakdown of serine and glycine. The deficiency in glycerate kinase leads to the accumulation of D-glyceric acid, which can be detected in the urine and blood. This accumulation can cause metabolic acidosis and other related symptoms.
Genetics[edit | edit source]
D-Glyceric Acidemia is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the disorder. The gene responsible for this condition is located on chromosome 17.
Clinical Features[edit | edit source]
The clinical presentation of D-Glyceric Acidemia can vary widely among affected individuals. Common symptoms include:
Diagnosis[edit | edit source]
Diagnosis of D-Glyceric Acidemia is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of D-glyceric acid in the urine and blood are indicative of the disorder. Genetic testing can confirm the presence of mutations in the gene responsible for glycerate kinase.
Treatment[edit | edit source]
There is currently no cure for D-Glyceric Acidemia, and treatment is primarily supportive. Management strategies may include:
- Dietary modifications to reduce the intake of serine and glycine
- Bicarbonate therapy to manage metabolic acidosis
- Anticonvulsant medications to control seizures
Prognosis[edit | edit source]
The prognosis for individuals with D-Glyceric Acidemia varies depending on the severity of the condition and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes and quality of life for affected individuals.
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Contributors: Prab R. Tumpati, MD
