Methylmalonyl-CoA mutase deficiency: Difference between revisions

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

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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 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

@@ Line 1: / Line 1: @@
-{{Short description|A genetic disorder affecting metabolism}}
+{{SI}}
-{{Medical condition (new)}}
+{{Infobox medical condition
+| name                    = Methylmalonyl-CoA mutase deficiency
-'''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.
+| image                   = [[File:Protein_MUT_PDB_2XIJ.png|250px]]
+| caption                 = Structure of the [[Methylmalonyl-CoA mutase]] enzyme
-==Pathophysiology==
+| synonyms                = MUT deficiency
-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.
+| field                   = [[Medical genetics]]
+| symptoms                = [[Metabolic acidosis]], [[failure to thrive]], [[developmental delay]]
-==Genetics==
+| complications           = [[Neurological damage]], [[renal failure]]
-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.
+| onset                   = [[Infancy]]
+| duration                = [[Chronic]]
-==Clinical Presentation==
+| types                   = [[MUT0]], [[MUT-]]
-Symptoms of methylmalonyl-CoA mutase deficiency can vary widely but often include:
+| causes                  = [[Genetic mutation]] in the [[MUT gene]]
-* [[Failure to thrive]]
+| risks                   = [[Consanguinity]], [[family history]]
-* [[Vomiting]]
+| diagnosis               = [[Genetic testing]], [[metabolic screening]]
-* [[Dehydration]]
+| differential            = [[Propionic acidemia]], [[methylmalonic acidemia]]
-* [[Developmental delay]]
+| prevention              = [[Genetic counseling]]
-* [[Seizures]]
+| treatment               = [[Dietary management]], [[cobalamin supplementation]]
-* [[Hypotonia]]
+| medication              = [[Hydroxocobalamin]], [[L-carnitine]]
-* [[Lethargy]]
+| prognosis               = Variable, depends on type and treatment
+| frequency               = Rare, estimated 1 in 50,000 to 100,000
-In severe cases, the condition can lead to [[coma]] or even [[death]] if not treated promptly.
+| deaths                  = Can be fatal if untreated
+}}
-==Diagnosis==
+'''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.
-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.
+== 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.
-==Treatment==
+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.
-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]].
+== 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.
-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.
+Common symptoms include:
+* Poor feeding
-==Prognosis==
+* Vomiting
-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.
+* Lethargy
+* Hypotonia
-==Related pages==
+* Developmental delay
+* Failure to thrive
+* Metabolic acidosis
+== 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.
+== 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.
+== Complications ==
+If left untreated, methylmalonyl-CoA mutase deficiency can lead to serious complications, including:
+* Neurological damage
+* Chronic kidney disease
+* Pancreatitis
+* Cardiomyopathy
+== See also ==
 * [[Organic acidemia]]
 * [[Metabolic disorder]]
-* [[Autosomal recessive disorder]]
+* [[Amino acid metabolism]]
+* [[Citric acid cycle]]
+[[File:Urea_cycle_2.png|left|thumb|The urea cycle, related to amino acid metabolism.]]
+== See Also ==
+* [[Propionic acidemia]]
+* [[Isovaleric acidemia]]
+* [[Maple syrup urine disease]]
+{{Metabolic disorders}}
 [[Category:Genetic disorders]]
 [[Category:Metabolic disorders]]
+[[Category:Rare diseases]]