Early infantile presentation of 3-methylcrotonyl CoA carboxylase deficiency: a case report

Authors

  • Anuragsingh Chandel Department of Pediatrics, MGIMS, Sevagram, Maharashtra, India http://orcid.org/0000-0001-5839-0249
  • Ashwini Shirsat Department of Pediatrics, Sir H N Reliance Foundation Hospital and Research Centre, Mumbai, Maharashtra, India
  • Varsha Chouhan Department of Pediatrics, MGIMS, Sevagram, Maharashtra, India
  • Akash Bang Department of Pediatrics, AIIMS, Nagpur, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212060

Keywords:

3-methylcrotonyl CoA carboxylase, 3-MCC, Newborn screening, Inborn error of metabolism

Abstract

3-methylcrotonyl CoA carboxylase (3-MCC) deficiency is an inborn error of leucine amino acid metabolism. An isolated enzyme deficiency should be differentiated from biotin metabolism disorder which has all of the four carboxylase deficiencies. With the advent of tandem mass spectrometry (TMS), high number of infants have been diagnosed with 3-MCC deficiency. Most neonates having 3-MCC deficiency appear normal, studies have shown an increased risk of developmental and metabolic abnormalities. Universal newborn screening is not routinely done in India. Many infants with 3-MCC deficiency may be missed at birth and may present with symptoms later in life. We reported a case of four and a half month old male infant with seizures due to 3-MCC deficiency. Very few data on 3-MCC deficiency is available in India and hence this case report.

Author Biographies

Anuragsingh Chandel, Department of Pediatrics, MGIMS, Sevagram, Maharashtra, India

Assistant Professor, Department of Pediatrics

Ashwini Shirsat, Department of Pediatrics, Sir H N Reliance Foundation Hospital and Research Centre, Mumbai, Maharashtra, India

Junior Resident, Department of Pediatrics.

Varsha Chouhan, Department of Pediatrics, MGIMS, Sevagram, Maharashtra, India

Professor, Department of Pediatrics

Akash Bang, Department of Pediatrics, AIIMS, Nagpur, Maharashtra, India

Additional Professor, Department of Pediatrics.

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Published

2021-05-25

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Case Reports