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D(+)-glyceric aciduria: etiology and clinical consequences
J R Bonham1, T J Stephenson, K H Carpenter
1Department of Chemical Pathology, Children's Hospital, Sheffield, United Kingdom.
Pediatric Research
|July 1, 1990
Summary
A genetic disorder causing high urinary D(+)-glyceric acid was found in four children. This condition, likely a D(+)-glycerate kinase deficiency, appears benign with minimal clinical symptoms.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- D(+)-glyceric acid is a metabolite with an unknown physiological role.
- Genetic defects in metabolic pathways can lead to the accumulation of specific metabolites.
Observation:
- A family study identified four children excreting massive amounts of D(+)-glyceric acid (10.8–19.9 mmol/24 h).
- Gas chromatography-mass spectrometry and chiral analysis confirmed the metabolite and its configuration.
- The affected children exhibited minimal clinical abnormalities, including mild microcephaly and speech delay in two individuals.
Findings:
- The condition is linked to D(+)-glycerate kinase deficiency, suggested by increased D(+)-glycerate excretion after fructose and serine loading.
- The unaffected child and parents did not excrete elevated levels of D(+)-glyceric acid.
- Most affected children were healthy and developmentally normal, despite high metabolite levels.
Implications:
- D(+)-glycerate kinase deficiency may be a benign metabolic disorder with variable clinical presentation.
- This finding expands the understanding of inborn errors of metabolism and their clinical spectrum.
- Further research can clarify the precise role of D(+)-glyceric acid and the long-term prognosis of this deficiency.