Methylmalonyl-CoA mutase deficiency: Difference between revisions
CSV import |
CSV import |
||
| (One intermediate revision by the same user not shown) | |||
| Line 1: | Line 1: | ||
= Methylmalonyl-CoA | {{SI}} | ||
{{Infobox medical condition | |||
[[File:Protein_MUT_PDB_2XIJ.png| | | name = Methylmalonyl-CoA mutase deficiency | ||
| image = [[File:Protein_MUT_PDB_2XIJ.png|250px]] | |||
| caption = Structure of the [[Methylmalonyl-CoA mutase]] enzyme | |||
| synonyms = MUT deficiency | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Metabolic acidosis]], [[failure to thrive]], [[developmental delay]] | |||
| complications = [[Neurological damage]], [[renal failure]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| types = [[MUT0]], [[MUT-]] | |||
| causes = [[Genetic mutation]] in the [[MUT gene]] | |||
| risks = [[Consanguinity]], [[family history]] | |||
| diagnosis = [[Genetic testing]], [[metabolic screening]] | |||
| differential = [[Propionic acidemia]], [[methylmalonic acidemia]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Dietary management]], [[cobalamin supplementation]] | |||
| medication = [[Hydroxocobalamin]], [[L-carnitine]] | |||
| prognosis = Variable, depends on type and treatment | |||
| frequency = Rare, estimated 1 in 50,000 to 100,000 | |||
| deaths = Can be fatal if untreated | |||
}} | |||
'''Methylmalonyl-CoA mutase deficiency''' is a rare metabolic disorder that affects the body's ability to break down certain proteins and fats. It is a type of [[organic acidemia]] and is caused by a deficiency in the enzyme methylmalonyl-CoA mutase (MUT), which is crucial for the metabolism of certain amino acids and lipids. | '''Methylmalonyl-CoA mutase deficiency''' is a rare metabolic disorder that affects the body's ability to break down certain proteins and fats. It is a type of [[organic acidemia]] and is caused by a deficiency in the enzyme methylmalonyl-CoA mutase (MUT), which is crucial for the metabolism of certain amino acids and lipids. | ||
== Pathophysiology == | == Pathophysiology == | ||
Methylmalonyl-CoA mutase is an enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, a critical step in the degradation of certain amino acids, such as [[valine]], [[isoleucine]], [[methionine]], and [[threonine]]. This reaction is part of the [[citric acid cycle]], which is essential for energy production in cells. | Methylmalonyl-CoA mutase is an enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, a critical step in the degradation of certain amino acids, such as [[valine]], [[isoleucine]], [[methionine]], and [[threonine]]. This reaction is part of the [[citric acid cycle]], which is essential for energy production in cells. | ||
In individuals with methylmalonyl-CoA mutase deficiency, the enzyme is either absent or not functioning properly, leading to the accumulation of methylmalonic acid and other toxic substances in the body. This accumulation can cause a variety of symptoms and complications, including metabolic acidosis, developmental delay, and organ damage. | In individuals with methylmalonyl-CoA mutase deficiency, the enzyme is either absent or not functioning properly, leading to the accumulation of methylmalonic acid and other toxic substances in the body. This accumulation can cause a variety of symptoms and complications, including metabolic acidosis, developmental delay, and organ damage. | ||
== Clinical Presentation == | == Clinical Presentation == | ||
The clinical presentation of methylmalonyl-CoA mutase deficiency can vary widely among affected individuals. Symptoms may appear in the neonatal period or later in life, depending on the severity of the enzyme deficiency. | The clinical presentation of methylmalonyl-CoA mutase deficiency can vary widely among affected individuals. Symptoms may appear in the neonatal period or later in life, depending on the severity of the enzyme deficiency. | ||
Common symptoms include: | Common symptoms include: | ||
* Poor feeding | * Poor feeding | ||
| Line 25: | Line 36: | ||
* Failure to thrive | * Failure to thrive | ||
* Metabolic acidosis | * Metabolic acidosis | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of methylmalonyl-CoA mutase deficiency is typically made through a combination of clinical evaluation, biochemical testing, and genetic analysis. Elevated levels of methylmalonic acid in the blood and urine are indicative of the disorder. | Diagnosis of methylmalonyl-CoA mutase deficiency is typically made through a combination of clinical evaluation, biochemical testing, and genetic analysis. Elevated levels of methylmalonic acid in the blood and urine are indicative of the disorder. | ||
== Treatment == | == Treatment == | ||
Treatment for methylmalonyl-CoA mutase deficiency often involves dietary management to limit the intake of certain amino acids that cannot be properly metabolized. In some cases, vitamin B12 (cobalamin) supplementation may be beneficial, particularly in patients with a cobalamin-responsive form of the disorder. | Treatment for methylmalonyl-CoA mutase deficiency often involves dietary management to limit the intake of certain amino acids that cannot be properly metabolized. In some cases, vitamin B12 (cobalamin) supplementation may be beneficial, particularly in patients with a cobalamin-responsive form of the disorder. | ||
== Complications == | == Complications == | ||
If left untreated, methylmalonyl-CoA mutase deficiency can lead to serious complications, including: | If left untreated, methylmalonyl-CoA mutase deficiency can lead to serious complications, including: | ||
* Neurological damage | * Neurological damage | ||
| Line 43: | Line 46: | ||
* Pancreatitis | * Pancreatitis | ||
* Cardiomyopathy | * Cardiomyopathy | ||
== See also == | |||
== | |||
* [[Organic acidemia]] | * [[Organic acidemia]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Amino acid metabolism]] | * [[Amino acid metabolism]] | ||
* [[Citric acid cycle]] | * [[Citric acid cycle]] | ||
[[File:Urea_cycle_2.png|left|thumb|The urea cycle, related to amino acid metabolism.]] | |||
[[File:Urea_cycle_2.png|thumb | |||
== See Also == | == See Also == | ||
* [[Propionic acidemia]] | * [[Propionic acidemia]] | ||
* [[Isovaleric acidemia]] | * [[Isovaleric acidemia]] | ||
* [[Maple syrup urine disease]] | * [[Maple syrup urine disease]] | ||
{{Metabolic disorders}} | {{Metabolic disorders}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 04:19, 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
| Methylmalonyl-CoA mutase deficiency | |
|---|---|
| |
| Synonyms | MUT deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Metabolic acidosis, failure to thrive, developmental delay |
| Complications | Neurological damage, renal failure |
| Onset | Infancy |
| Duration | Chronic |
| Types | MUT0, MUT- |
| Causes | Genetic mutation in the MUT gene |
| Risks | Consanguinity, family history |
| Diagnosis | Genetic testing, metabolic screening |
| Differential diagnosis | Propionic acidemia, methylmalonic acidemia |
| Prevention | Genetic counseling |
| Treatment | Dietary management, cobalamin supplementation |
| Medication | Hydroxocobalamin, L-carnitine |
| Prognosis | Variable, depends on type and treatment |
| Frequency | Rare, estimated 1 in 50,000 to 100,000 |
| Deaths | Can be fatal if untreated |
Methylmalonyl-CoA mutase deficiency is a rare metabolic disorder that affects the body's ability to break down certain proteins and fats. It is a type of organic acidemia and is caused by a deficiency in the enzyme methylmalonyl-CoA mutase (MUT), which is crucial for the metabolism of certain amino acids and lipids.
Pathophysiology[edit]
Methylmalonyl-CoA mutase is an enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, a critical step in the degradation of certain amino acids, such as valine, isoleucine, methionine, and threonine. This reaction is part of the citric acid cycle, which is essential for energy production in cells. In individuals with methylmalonyl-CoA mutase deficiency, the enzyme is either absent or not functioning properly, leading to the accumulation of methylmalonic acid and other toxic substances in the body. This accumulation can cause a variety of symptoms and complications, including metabolic acidosis, developmental delay, and organ damage.
Clinical Presentation[edit]
The clinical presentation of methylmalonyl-CoA mutase deficiency can vary widely among affected individuals. Symptoms may appear in the neonatal period or later in life, depending on the severity of the enzyme deficiency. Common symptoms include:
- Poor feeding
- Vomiting
- Lethargy
- Hypotonia
- Developmental delay
- Failure to thrive
- Metabolic acidosis
Diagnosis[edit]
Diagnosis of methylmalonyl-CoA mutase deficiency is typically made through a combination of clinical evaluation, biochemical testing, and genetic analysis. Elevated levels of methylmalonic acid in the blood and urine are indicative of the disorder.
Treatment[edit]
Treatment for methylmalonyl-CoA mutase deficiency often involves dietary management to limit the intake of certain amino acids that cannot be properly metabolized. In some cases, vitamin B12 (cobalamin) supplementation may be beneficial, particularly in patients with a cobalamin-responsive form of the disorder.
Complications[edit]
If left untreated, methylmalonyl-CoA mutase deficiency can lead to serious complications, including:
- Neurological damage
- Chronic kidney disease
- Pancreatitis
- Cardiomyopathy
See also[edit]
See Also[edit]
| Metabolic disorders | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
This metabolic disorder related article is a stub.
|
