3-Methylcrotonyl-CoA carboxylase deficiency

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3-Methylcrotonyl-CoA carboxylase deficiency
Other names3MCC deficiency, 3-methylcrotonylglycinuria, MCC deficiency, MCCD
Skeletal formula of methylcrotonyl coenzyme A
SpecialtyMedical genetics

3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria is an

subunits.[3] The clinical presentation of 3-Methylcrotonyl-CoA carboxylase deficiency is varied, even within members of the same family.[4]

Manifestations of 3-Methylcrotonyl-CoA carboxylase deficiency range from asymptomatic

3-hydroxyisovaleric acid
and 3-methylcrotonylglycine in the urine. 3-hydroxyisovalerylcarnitine is often found in both the urine and blood.

The diagnosis of 3-Methylcrotonyl-CoA carboxylase deficiency is confirmed by decreased enzyme activity in

L-carnitine supplements,[10] glycine administration,[11] biotin supplements[4] and dietary restriction of leucine.[12] 3-Methylcrotonyl-CoA carboxylase deficiency is the most common organic aciduria detected by newborn screening programs in Australia,[13] North America,[14] and Europe.[15]

Signs and symptoms

Those with 3-Methylcrotonyl-CoA carboxylase deficiency typically display normal development until 6 months to 3 years old when patients present with an acute episode. These acute episodes are typically brought on by increased

Carnitine deficiency is found in about 50% of cases.[18]

Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency.[5] Manifestations of 3-Methylcrotonyl-CoA carboxylase deficiency vary even among family members who share a common environment and genetics.[4]

Genetics

The

3-methylcrotonyl-CoA carboxylase. This enzyme plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the fourth step in processing leucine. If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system. This condition is inherited in an autosomal recessive pattern.[19]

Diagnosis

3-Methylcrotonyl-CoA carboxylase deficiency is diagnosed by the detection of

acylcarnitines profile shows elevated concentrations of 3-hydroxyisovalerylcarnitine as well as an increased ratio of 3-hydroxyisovalerylcarnitine to propionylcarnitine.[3]

Since

DNA analysis may help confirm 3-Methylcrotonyl-CoA carboxylase deficiency when the diagnosis is uncertain.[9]

3-hydroxyisovalerylcarnitine is also elevated in other metabolism disorders such as

3-methylcrotonyl-CoA carboxylase, biotinidase, and other biotin dependant carboxylases.[12]

Screening

It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.[21]

Treatment

Symptoms can be reduced through avoidance of

multiple carboxylase disorders have the same problem with leucine catabolism as those with 3-methylcrotonyl-CoA carboxylase deficiency.[23]

See also

References

This article incorporates public domain text from The U.S. National Library of Medicine

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  19. ^ "3-methylcrotonyl-CoA carboxylase deficiency: MedlinePlus Genetics". MedlinePlus. October 1, 2008. Retrieved November 27, 2023.
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  21. ^ "ACT Sheets and Algorithms". acmg.net. Archived from the original on 2019-03-27. Retrieved 2019-03-27.
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Further reading

External links
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