• Corpus ID: 73824891

Isolated 3-Methylcrotonyl CoA Carboxylase Deficiency Detected by Newborn Screening Program Using Tandem Mass Spectrometry

@article{Kwak2005Isolated3C,
  title={Isolated 3-Methylcrotonyl CoA Carboxylase Deficiency Detected by Newborn Screening Program Using Tandem Mass Spectrometry},
  author={Ju Young Kwak and Jun Young Park and Kyung-ah Nam and Sang Hi Son and Son Sang Seo},
  journal={Korean Journal of Pediatrics},
  year={2005},
  volume={48},
  pages={561-564}
}
3-Methylcrotonyl CoA carboxylase(3-MCC)는 네 가지 biotin-dependent carboxylase(pyruvate carboxylase[PC], propionyl CoA carboxylase[PCC], acetyl CoA carboxylase and 3-methylcrotonyl CoA carboxylase) 중 하나로 leucine 대사에 관여하며 결핍시 소변으로 3-hydroxyisovaleric acid(3-OHIVA) 와 3-methylcrotonylglycine(3-MCG) 배설이 증가하고 혈장내 3-hydroxyisovaleryl carnitine(3-OHIVC)이 축적되며 secondary carnitine deficiency를 유발한다 1) . 1970년 Eldjarn 등 2) 이 3-methylcrotonylglycinuria를 새로운 대사장애 질환으로 처음 보고하였다. 국내에서는 탠덤매스를 이용한 신생아 대사질환 스 
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Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
TLDR
An asymptomatic 3MCC deficient mother is identified when she showed abnormal results during a neonatal screening test of a healthy infant.

References

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3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency
TLDR
A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency, and analysis by tandem mass spectrometry identified it as a 3-hydroxy-C5-acylc Carnitine, and its origin from leucine was identified.
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset
TLDR
A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described, resulting in a severe episode with seizures and coma.
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
TLDR
It is established that 3-methylcrotonylglycinuria results from loss-of-function mutations in the genes encoding the alpha and beta subunits of MCC and complete the genetic characterization of the four human biotin-dependent carboxylases.
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease
TLDR
An asymptomatic male infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency who came to medical attention by newborn mass screening due to elevated blood leucine is described.
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency
TLDR
3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of “metabolic stroke” in acute focal brain disease, metabolic disorders must be considered.
Isolated 3-methylcrotonyl-CoA car☐ylase deficiency in a 15-year-old girl
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness
Les auteurs rapportent le cas d'un nourrisson atteint d'un deficit isole en 3-methylcrotonyl-CoA carboxylase, resistant a la biotine
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome
TLDR
The non-responsiveness of the authors' patient to therapy and the fatal outcome indicate the existence of a severe neonatal variant of this otherwise rather benign genetic enzyme deficiency.
3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father
TLDR
In order to understand the phenotypic spectrum of this rare disorder, cardiac evaluation should be made in patients with 3-methylcrotonyl-CoA carboxylase deficiency, particularly in those with dilatative cardiomyopathy.
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
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