PAEDIATRIC CASE OF 3-METHYLCROTONYLGLYCINURIA WITH ENCEPHALOPATHY: A CASE REPORT FROM PAKISTAN

Authors

  • Murtaza Ali Gova National Institute of Child Health, Karachi-Pakistan
  • Noshaba Noor National Institute of Child Health, Karachi-Pakistan
  • Hira Nawaz National Institute of Child Health, Karachi-Pakistan
  • Rameen Akhter Molani Jinnah Sindh Medical University, Karachi-Pakistan

DOI:

https://doi.org/10.55519/JAMC-01-12130

Abstract

3-Methylcrotonylglycinuria is a common inborn error of metabolism (IEM) resulting from the deficiency of 3-Methylcrotonyl-CoA carboxylase (3-MCC) and its prevalence ranges from 1:2400 to 1:6800. The disease may be asymptomatic or may present with signs of "metabolic crisis". In our four and a half months old male patient, the disease manifested as fever, fits and an altered level of consciousness, along with signs and symptoms of metabolic crisis. The purpose of this case report is to highlight a clinical presentation of 3-MCG, as seen in this patient to ensure timely diagnosis and treatment.  

Author Biographies

Murtaza Ali Gova, National Institute of Child Health, Karachi-Pakistan

 

Noshaba Noor, National Institute of Child Health, Karachi-Pakistan

 

Hira Nawaz, National Institute of Child Health, Karachi-Pakistan

 

Rameen Akhter Molani, Jinnah Sindh Medical University, Karachi-Pakistan

 

References

Cozzolino C, Villani GR, Frisso G, Scolamiero E, Albano L, Gallo G, et al. Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. Genet Mol Biol 2018;41(2):379–85.

Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, et al. Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. Clin Genet 2014;88(5):484–8.

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, et al. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. Mol Genet Metab 2016;118(1):15–20.

Afzal RM, Lund AM, Skovby F. The impact of consanguinity on the frequency of inborn errors of metabolism. Mol Genet Metab Rep 2018;15:6–10.

Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. Ann Transl Med 2018;6(24):469–9.

Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, et al. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. J Inherit Metab Dis 2015;39(2):211–7.

Gong L, Ye J, Han L, Qiu W, Zhang H, Gao X, et al. [Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2013;30(5):574–8.

Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. Gene 2016;594(2):203–10.

Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, et al. 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary? J Pediatr Endocrinol Metab 2019;32(12):1321–6.

Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, et al. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab 2012;106(4):439–41.

Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M. An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. J Pediatr Endocrinol Metab 2015;28(5-6):669–71.

Case 450 --Clinical Chemistry Case [Internet]. path.upmc.edu. [cited 2024 Mar 4]. Available from: https://path.upmc.edu/cases/case450.html

Saleem F, Soos MP. Biotin Deficiency [Internet]. PubMed. Treasure Island (FL): StatPearls Publishing; 2020. [cited 2024 Mar 4]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK547751/

Kowalik A, Gajewska D, Jolanta Sykut-Cegielska. Difficulties in the dietary management of a girl with two diseases requiring a special diet. Dev Period Med 2018;22(3):225–8.

JCPSP | Journal of College of Physicians and Surgeons Pakistan [Internet]. jcpsp.pk. [cited 2024 Mar 4].Available from: https://jcpsp.pk/article-detail/multiple-carboxylase-deficiency-organic-acidemia-as-a-cause-of-infantile-seizur

Additional Files

Published

2024-04-17