Malonic aciduria: Difference between revisions
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{{Infobox medical condition | |||
| name = Malonic aciduria | |||
| image = [[File:Malonyl-CoA2.svg|left|thumb|Malonyl-CoA]] | |||
| caption = Malonyl-CoA, a key compound involved in malonic aciduria | |||
| synonyms = Malonyl-CoA decarboxylase deficiency | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[seizures]], [[metabolic acidosis]], [[hypoglycemia]] | |||
| onset = Infancy | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[MLYCD]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[urine organic acid analysis]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Dietary management]], [[carnitine]] supplementation | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare metabolic disorder}} | {{Short description|A rare metabolic disorder}} | ||
'''Malonic aciduria''', also known as '''malonyl-CoA decarboxylase deficiency''', is a rare [[metabolic disorder]] characterized by the accumulation of [[malonic acid]] in the body. This condition is caused by a deficiency in the enzyme malonyl-CoA decarboxylase, which is crucial for the proper metabolism of certain fatty acids. | '''Malonic aciduria''', also known as '''malonyl-CoA decarboxylase deficiency''', is a rare [[metabolic disorder]] characterized by the accumulation of [[malonic acid]] in the body. This condition is caused by a deficiency in the enzyme malonyl-CoA decarboxylase, which is crucial for the proper metabolism of certain fatty acids. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Malonic aciduria results from a deficiency in the enzyme malonyl-CoA decarboxylase, which is responsible for converting [[malonyl-CoA]] to [[acetyl-CoA]] and [[carbon dioxide]]. This enzyme deficiency leads to the accumulation of malonyl-CoA and malonic acid, disrupting normal [[fatty acid metabolism]]. The accumulation of these substances can interfere with energy production and other metabolic processes, leading to the symptoms observed in affected individuals. | Malonic aciduria results from a deficiency in the enzyme malonyl-CoA decarboxylase, which is responsible for converting [[malonyl-CoA]] to [[acetyl-CoA]] and [[carbon dioxide]]. This enzyme deficiency leads to the accumulation of malonyl-CoA and malonic acid, disrupting normal [[fatty acid metabolism]]. The accumulation of these substances can interfere with energy production and other metabolic processes, leading to the symptoms observed in affected individuals. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Individuals with malonic aciduria may present with a variety of symptoms, which can vary in severity. Common clinical features include: | Individuals with malonic aciduria may present with a variety of symptoms, which can vary in severity. Common clinical features include: | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Hypotonia]] (reduced muscle tone) | * [[Hypotonia]] (reduced muscle tone) | ||
| Line 17: | Line 33: | ||
* [[Metabolic acidosis]] | * [[Metabolic acidosis]] | ||
* [[Failure to thrive]] | * [[Failure to thrive]] | ||
The onset of symptoms can occur in infancy or early childhood, and the severity can range from mild to life-threatening. | The onset of symptoms can occur in infancy or early childhood, and the severity can range from mild to life-threatening. | ||
==Genetics== | ==Genetics== | ||
[[File:Autosomal_recessive_-_en.svg|thumb | [[File:Autosomal_recessive_-_en.svg|left|thumb|Diagram showing autosomal recessive inheritance.]] | ||
Malonic aciduria 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 16 and is known as MLYCD, which encodes the malonyl-CoA decarboxylase enzyme. | Malonic aciduria 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 16 and is known as MLYCD, which encodes the malonyl-CoA decarboxylase enzyme. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of malonic aciduria is typically made based on clinical symptoms, biochemical testing, and genetic analysis. Key diagnostic tests include: | The diagnosis of malonic aciduria is typically made based on clinical symptoms, biochemical testing, and genetic analysis. Key diagnostic tests include: | ||
* Measurement of malonic acid levels in the urine and blood | * Measurement of malonic acid levels in the urine and blood | ||
* Enzyme assay to assess malonyl-CoA decarboxylase activity | * Enzyme assay to assess malonyl-CoA decarboxylase activity | ||
* Genetic testing to identify mutations in the MLYCD gene | * Genetic testing to identify mutations in the MLYCD gene | ||
==Management== | ==Management== | ||
There is currently no cure for malonic aciduria, and treatment is primarily supportive and symptomatic. Management strategies may include: | There is currently no cure for malonic aciduria, and treatment is primarily supportive and symptomatic. Management strategies may include: | ||
* Dietary modifications to reduce the intake of certain fatty acids | * Dietary modifications to reduce the intake of certain fatty acids | ||
* Supplementation with [[carnitine]] to enhance fatty acid metabolism | * Supplementation with [[carnitine]] to enhance fatty acid metabolism | ||
* Medications to manage seizures and other symptoms | * Medications to manage seizures and other symptoms | ||
* Regular monitoring and supportive care to address developmental and metabolic needs | * Regular monitoring and supportive care to address developmental and metabolic needs | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with malonic aciduria varies depending on the severity of the enzyme deficiency 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 malonic aciduria varies depending on the severity of the enzyme deficiency 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]] | ||
* [[Fatty acid metabolism]] | * [[Fatty acid metabolism]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 03:47, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Malonic aciduria | |
|---|---|
 | |
| Synonyms | Malonyl-CoA decarboxylase deficiency |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, seizures, metabolic acidosis, hypoglycemia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the MLYCD gene |
| Risks | |
| Diagnosis | Genetic testing, urine organic acid analysis |
| Differential diagnosis | |
| Prevention | |
| Treatment | Dietary management, carnitine supplementation |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
A rare metabolic disorder
Malonic aciduria, also known as malonyl-CoA decarboxylase deficiency, is a rare metabolic disorder characterized by the accumulation of malonic acid in the body. This condition is caused by a deficiency in the enzyme malonyl-CoA decarboxylase, which is crucial for the proper metabolism of certain fatty acids.
Pathophysiology[edit]
Malonic aciduria results from a deficiency in the enzyme malonyl-CoA decarboxylase, which is responsible for converting malonyl-CoA to acetyl-CoA and carbon dioxide. This enzyme deficiency leads to the accumulation of malonyl-CoA and malonic acid, disrupting normal fatty acid metabolism. The accumulation of these substances can interfere with energy production and other metabolic processes, leading to the symptoms observed in affected individuals.
Clinical Presentation[edit]
Individuals with malonic aciduria may present with a variety of symptoms, which can vary in severity. Common clinical features include:
- Developmental delay
- Hypotonia (reduced muscle tone)
- Seizures
- Cardiomyopathy
- Metabolic acidosis
- Failure to thrive
The onset of symptoms can occur in infancy or early childhood, and the severity can range from mild to life-threatening.
Genetics[edit]
Malonic aciduria 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 16 and is known as MLYCD, which encodes the malonyl-CoA decarboxylase enzyme.
Diagnosis[edit]
The diagnosis of malonic aciduria is typically made based on clinical symptoms, biochemical testing, and genetic analysis. Key diagnostic tests include:
- Measurement of malonic acid levels in the urine and blood
- Enzyme assay to assess malonyl-CoA decarboxylase activity
- Genetic testing to identify mutations in the MLYCD gene
Management[edit]
There is currently no cure for malonic aciduria, and treatment is primarily supportive and symptomatic. Management strategies may include:
- Dietary modifications to reduce the intake of certain fatty acids
- Supplementation with carnitine to enhance fatty acid metabolism
- Medications to manage seizures and other symptoms
- Regular monitoring and supportive care to address developmental and metabolic needs
Prognosis[edit]
The prognosis for individuals with malonic aciduria varies depending on the severity of the enzyme deficiency and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes and quality of life for affected individuals.
