D-glyceric aciduria

D-glyceric aciduria (also known as D-glyceric acidemia) is an extremely rare inborn error of metabolism characterized by the accumulation of D-glyceric acid in body fluids, particularly urine and blood. The condition is caused by a deficiency of the enzyme glycerate kinase, which is involved in the metabolism of serine and fructose. This enzymatic defect leads to elevated levels of D-glyceric acid that can be detected through organic acid analysis of urine. The disease primarily affects the central nervous system. Clinical features are variable but commonly include progressive encephalopathy, intellectual disability, seizures, hypotonia, and psychomotor developmental delay. Some patients may also present with metabolic acidosis during acute episodes. The severity of the condition can range from mild to severe, and the clinical presentation may vary considerably even among affected individuals. Some cases have been identified incidentally through metabolic screening with relatively mild or absent neurological symptoms. There is currently no specific curative treatment for D-glyceric aciduria. Management is primarily supportive and symptomatic, focusing on seizure control with anticonvulsant medications, developmental support through physical and occupational therapy, and dietary management. During metabolic crises, supportive care including hydration and correction of metabolic acidosis may be necessary. Dietary restriction of fructose and serine has been attempted in some cases, though evidence for its efficacy remains limited due to the extreme rarity of the condition. Fewer than 20 cases have been reported in the medical literature.

Common questions about D-glyceric aciduria