3-methylcrotonyl-coa carboxylase deficiency (3-MCC)

Symptoms

What are the main symptoms of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) disease?

As with most metabolic syndromes, patients with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency will most likely appear healthy when they are first born. Symptoms of 3-MCC deficiency may start occurring during infancy or early childhood. Typically, an individual is healthy and does not have any symptoms of the disorder. However, when a person with 3-MCC deficiency is sick or not eating well, they may have symptoms. These symptoms may include lethargy (excessive tiredness), poor feeding, vomiting, low blood sugar (hypoglycemia) and metabolic abnormalities (ketoacidosis or lactic acidosis). If a person with 3-MCC deficiency is not treated promptly, they may go into a coma or could even die. The symptoms can be extremely variable, and some people with 3-MCC deficiency never experience symptoms. The majority of babies identified on newborn screening are asymptomatic. It is not possible for doctors to predict which patients with 3-MCC will become symptomatic.

The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

References
  • Grunert, SC et al. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases. 7:31. 2012. DOI: 10.1186/1750-1172-7-31.
  • 3-methylcrotonyl-CoA carboxylase deficiency. Genetics Home reference. https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency
  • Arnold, GL et al. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab. 2012 Apr;106:439-441.
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More Symptoms Content

Are there earlier onset, later onset, or variant forms of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

What health problems should I look for in 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Any other diseases that look a lot like 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

What variable expression is in 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Are there earlier onset, later onset, or variant forms of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

There are not different forms of 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, however the disorder is very variable. The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

References
What health problems should I look for in 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

If a person is diagnosed with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, they should be carefully followed by a biochemical geneticist (a doctor who specializes in metabolic disorders). Individuals with 3-MCC deficiency do not typically have health problems, however when they are sick, they can have a "metabolic decompensation". When a person has a "metabolic decompensation", they can have lethargy, poor feeding and metabolic abnormalities which can lead to coma and death if not treated promptly. Speak with your biochemical geneticist to discuss what symptoms to watch for in 3-MCC deficiency.

References
Any other diseases that look a lot like 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is part of a group of metabolic disorders called "organic acidemias". There is some overlap between 3-MCC deficiency and the other disorders in the category. Biochemical testing of blood and urine can tell the difference between the different disorders. In the past, some people who had Reye syndrome were found to have 3-MCC deficiency.

The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

References
Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is unique because of the variability. Some people have signs and symptoms of the disorder, and others are asymptomatic throughout their lives. It is not possible to predict who will or will not develop symptoms.

Additionally, the biochemical markers that are seen in the blood and urine of somebody who has 3-MCC deficiency distinguish it from other metabolic disorders.

The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

References
What variable expression is in 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

There is significant variability in how severely a person with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency will be affected. Some people have symptoms within the first year of life, and some people never have symptoms. It is not possible to predict who will have symptoms.

The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

References

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