D-Glyceric acidemia
D-Glyceric Acidemia
D-Glyceric acidemia (pronounced dee-gly-ser-ic acid-ee-mia) is a rare metabolic disorder characterized by the body's inability to properly process certain proteins. The condition is inherited in an autosomal recessive manner.
Etymology
The term "D-Glyceric acidemia" is derived from the name of the compound "D-Glyceric acid", which accumulates in the body due to a deficiency of the enzyme D-glycerate kinase, and "acidemia", a medical term for an abnormal acidity of the blood.
Symptoms
Symptoms of D-Glyceric acidemia can vary widely, but often include developmental delay, seizures, and failure to thrive. Some individuals may also have hypotonia (low muscle tone), microcephaly (small head size), and hepatomegaly (enlarged liver).
Diagnosis
Diagnosis of D-Glyceric acidemia is typically made through biochemical testing and genetic testing. Biochemical testing involves measuring the levels of D-glyceric acid in the body, while genetic testing involves looking for mutations in the GLYCTK gene, which provides instructions for making the enzyme D-glycerate kinase.
Treatment
Treatment for D-Glyceric acidemia is primarily supportive and focuses on managing the symptoms. This may include dietary management to limit the intake of certain proteins, medications to control seizures, and physical and occupational therapy to help with developmental delays.
Prognosis
The prognosis for individuals with D-Glyceric acidemia varies depending on the severity of the symptoms and the individual's response to treatment. Some individuals may have a normal lifespan with appropriate management, while others may have a shortened lifespan due to complications from the disorder.
See Also
- Metabolic disorder
- Autosomal recessive
- Developmental delay
- Seizures
- Failure to thrive
- Hypotonia
- Microcephaly
- Hepatomegaly
- Biochemical testing
- Genetic testing
- Dietary management
External links
- Medical encyclopedia article on D-Glyceric acidemia
- Wikipedia's article - D-Glyceric acidemia
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