D-Glyceric acidemia: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = D-Glyceric acidemia | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = D-Glyceric acidemia is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = D-Glyceric aciduria | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Metabolic acidosis]], [[developmental delay]], [[hypotonia]], [[seizures]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[GLYCTK]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[urine organic acid analysis]] | |||
| differential = [[Lactic acidosis]], [[maple syrup urine disease]] | |||
| treatment = Dietary management, [[supportive care]] | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
}} | |||
== D-Glyceric Acidemia == | == D-Glyceric Acidemia == | ||
[[File:Autosomal recessive - en.svg|left|thumb|Diagram of autosomal recessive inheritance]] | |||
[[File:Autosomal recessive - en.svg|thumb | |||
'''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. | '''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 === | === 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. | 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 === | === 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. | 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 === | === Clinical Features === | ||
The clinical presentation of D-Glyceric Acidemia can vary widely among affected individuals. Common symptoms include: | The clinical presentation of D-Glyceric Acidemia can vary widely among affected individuals. Common symptoms include: | ||
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* [[Metabolic acidosis]] | * [[Metabolic acidosis]] | ||
* [[Failure to thrive]] | * [[Failure to thrive]] | ||
=== Diagnosis === | === 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. | 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 === | === Treatment === | ||
There is currently no cure for D-Glyceric Acidemia, and treatment is primarily supportive. Management strategies may include: | There is currently no cure for D-Glyceric Acidemia, and treatment is primarily supportive. Management strategies may include: | ||
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* [[Bicarbonate]] therapy to manage metabolic acidosis | * [[Bicarbonate]] therapy to manage metabolic acidosis | ||
* [[Anticonvulsant]] medications to control seizures | * [[Anticonvulsant]] medications to control seizures | ||
=== Prognosis === | === 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. | 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]] | * [[Metabolic disorder]] | ||
* [[Inborn error of metabolism]] | * [[Inborn error of metabolism]] | ||
* [[Autosomal recessive]] | * [[Autosomal recessive]] | ||
* [[Metabolic acidosis]] | * [[Metabolic acidosis]] | ||
{{Metabolic disorders}} | {{Metabolic disorders}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
Latest revision as of 13:48, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
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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[edit]
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]
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]
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]
The clinical presentation of D-Glyceric Acidemia can vary widely among affected individuals. Common symptoms include:
Diagnosis[edit]
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]
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]
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[edit]
| Metabolic disorders | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
This metabolic disorder related article is a stub.
|
