[Full Picture] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals - PubMed

Source: pubmed.ncbi.nlm.nih.gov

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Article summary:

1. 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2.

2. Clinical symptoms of the disorder range from acute neonatal onset with fatal outcome to asymptomatic adults, and 57% of patients were asymptomatic.

3. The study identified 15 novel MCCC1 and 16 novel MCCC2 mutant alleles, and expression studies on 3 MCCC1 and 8 MCCC2 mutations were conducted.

Article analysis:

The article “3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals” is a reliable source of information about the disorder. The authors have provided detailed information about the clinical symptoms, biochemical findings, enzymatic data, and molecular studies related to the disorder. The authors have also provided a comprehensive overview of all 132 known variants of the MCCC1 and MCCC2 genes associated with this disorder.

The article is written in a clear and concise manner that makes it easy to understand for readers who are not experts in this field. Furthermore, the authors have provided detailed information about their methods which allows readers to assess the reliability of their results. Additionally, they have included figures which help illustrate their findings more clearly.

However, there are some potential biases that should be noted when reading this article. For example, due to ascertainment bias 43% of patients showed clinical symptoms which may not necessarily be related to MCC deficiency but could be due to other factors such as environmental influences or lifestyle choices. Additionally, since only 88 individuals were studied it is possible that further research with larger sample sizes could yield different results or uncover additional insights into this disorder that were not explored in this study.

Topics for further research:

Methylcrotonyl-CoA carboxylase deficiency diagnosis Methylcrotonyl-CoA carboxylase deficiency treatment Methylcrotonyl-CoA carboxylase deficiency prognosis Methylcrotonyl-CoA carboxylase deficiency epidemiology Methylcrotonyl-CoA carboxylase deficiency genetics Methylcrotonyl-CoA carboxylase deficiency clinical trials