Methylmalonyl-CoA mutase deficiency: Difference between revisions
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{{Short description|A genetic disorder affecting metabolism}} | |||
{{Medical condition (new)}} | |||
'''Methylmalonyl-CoA mutase deficiency''' is a rare [[metabolic disorder]] that affects the body's ability to process certain proteins and fats. It is a type of [[organic acidemia]] and is caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is crucial for the conversion of methylmalonyl-CoA to succinyl-CoA, a step in the breakdown of certain amino acids and fatty acids. | |||
Methylmalonyl-CoA mutase deficiency is | |||
== | ==Pathophysiology== | ||
Methylmalonyl-CoA mutase deficiency results in the accumulation of methylmalonic acid in the blood and tissues. This accumulation can lead to metabolic acidosis, a condition where the blood becomes too acidic. The enzyme deficiency disrupts the normal metabolic pathway, leading to the buildup of toxic substances that can damage organs and tissues. | |||
==Genetics== | |||
The condition 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. The gene responsible for this condition is located on chromosome 6 and is known as the [[MUT gene]]. Mutations in this gene reduce or eliminate the activity of the methylmalonyl-CoA mutase enzyme. | |||
==Clinical Presentation== | |||
Symptoms of methylmalonyl-CoA mutase deficiency can vary widely but often include: | |||
* [[Failure to thrive]] | * [[Failure to thrive]] | ||
* [[Vomiting]] | * [[Vomiting]] | ||
* [[Dehydration]] | * [[Dehydration]] | ||
* [[Developmental delay]] | |||
* [[Seizures]] | |||
* [[Hypotonia]] | |||
* [[Lethargy]] | * [[Lethargy]] | ||
In severe cases, the condition can lead to | In severe cases, the condition can lead to [[coma]] or even [[death]] if not treated promptly. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of methylmalonic acid in the blood or urine are indicative of the disorder. Genetic testing can confirm mutations in the MUT gene. | |||
==Treatment== | ==Treatment== | ||
Treatment for methylmalonyl-CoA mutase deficiency often involves dietary management to limit the intake of certain proteins and fats. Patients may require a special diet low in [[isoleucine]], [[valine]], [[methionine]], and [[threonine]]. | |||
In some cases, [[vitamin B12]] (cobalamin) supplementation may be beneficial, particularly if the deficiency is due to a defect in the cobalamin metabolism pathway. Other treatments may include medications to manage symptoms and prevent complications. | |||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with | The prognosis for individuals with methylmalonyl-CoA mutase deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management can improve outcomes and quality of life. | ||
==Related pages== | |||
* [[Organic acidemia]] | |||
* [[Metabolic disorder]] | |||
* [[Autosomal recessive disorder]] | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
Revision as of 17:44, 18 February 2025
A genetic disorder affecting metabolism
Template:Medical condition (new)
Methylmalonyl-CoA mutase deficiency is a rare metabolic disorder that affects the body's ability to process certain proteins and fats. It is a type of organic acidemia and is caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is crucial for the conversion of methylmalonyl-CoA to succinyl-CoA, a step in the breakdown of certain amino acids and fatty acids.
Pathophysiology
Methylmalonyl-CoA mutase deficiency results in the accumulation of methylmalonic acid in the blood and tissues. This accumulation can lead to metabolic acidosis, a condition where the blood becomes too acidic. The enzyme deficiency disrupts the normal metabolic pathway, leading to the buildup of toxic substances that can damage organs and tissues.
Genetics
The condition 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. The gene responsible for this condition is located on chromosome 6 and is known as the MUT gene. Mutations in this gene reduce or eliminate the activity of the methylmalonyl-CoA mutase enzyme.
Clinical Presentation
Symptoms of methylmalonyl-CoA mutase deficiency can vary widely but often include:
In severe cases, the condition can lead to coma or even death if not treated promptly.
Diagnosis
Diagnosis is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of methylmalonic acid in the blood or urine are indicative of the disorder. Genetic testing can confirm mutations in the MUT gene.
Treatment
Treatment for methylmalonyl-CoA mutase deficiency often involves dietary management to limit the intake of certain proteins and fats. Patients may require a special diet low in isoleucine, valine, methionine, and threonine.
In some cases, vitamin B12 (cobalamin) supplementation may be beneficial, particularly if the deficiency is due to a defect in the cobalamin metabolism pathway. Other treatments may include medications to manage symptoms and prevent complications.
Prognosis
The prognosis for individuals with methylmalonyl-CoA mutase deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management can improve outcomes and quality of life.
