D-Glyceric acidemia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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D-Glyceric acidemia
Synonyms	D-Glyceric aciduria
Pronounce	N/A
Specialty	N/A
Symptoms	Metabolic acidosis, developmental delay, hypotonia, seizures
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the GLYCTK gene
Risks	Family history of the condition
Diagnosis	Genetic testing, urine organic acid analysis
Differential diagnosis	Lactic acidosis, maple syrup urine disease
Prevention	N/A
Treatment	Dietary management, supportive care
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

D-Glyceric Acidemia

Diagram of autosomal recessive inheritance

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

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

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

The clinical presentation of D-Glyceric Acidemia can vary widely among affected individuals. Common symptoms include:

• Developmental delay
• Hypotonia
• Seizures
• Metabolic acidosis
• Failure to thrive

Diagnosis

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

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

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.

See also

• Metabolic disorder
• Inborn error of metabolism
• Autosomal recessive
• Metabolic acidosis