Download PDF
Journal of Pediatric Neurology 2024; 22(03): 230-233
DOI: 10.1055/s-0043-1771353
Case Report

A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency

Vykuntaraju K. Gowda 
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Asha Shamnur
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Varunvenkat M. Srinivasan
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Dhananjaya K. Vamyanmane
2   Department of Pediatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Abstract

Glutaric aciduria type 1 is a rare treatable inborn error of metabolism caused due to deficiency of the enzyme glutaryl-CoA dehydrogenase. A restrictive lysine and tryptophan diet has significantly improved the outcome of presymptomatically diagnosed glutaric aciduria type 1 children. Here we present the case of a 6-month-old male infant with glutaric aciduria type 1 diagnosed based on clinical, biochemical, radiological, and genetically confirmed case on therapy with homemade diet modification. The patient later developed regression of milestones at 16 months of age while on treatment with good compliance. On examination, pallor and hypopigmented sparse hair with knuckle hyperpigmentation were noted. Investigation revealed low vitamin B12 levels. On vitamin B12 supplementation, the child showed significant improvement. A reversible cause needs to be looked for in patients on dietary restriction and formula feeds treated for metabolic disorders.

Keywords

glutaric aciduria type 1 - vitamin B12 deficiency - dietary therapy - neurometabolic disorders

Authors' Contributions

V.K.G. was responsible for supervision, guidance, and review of the manuscript. A.S. was responsible for supervision, diagnosis, guidance, and review of the manuscript. V.M.S. was involved in the diagnosis of the child and preparation of the manuscript. D.K.V. responsible for supervision, guidance, and review of the manuscript.




Publication History

Received: 21 May 2023

Accepted: 26 June 2023

Article published online:
31 July 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Goodman SI, Kratz LE, DiGiulio KA. et al. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 1995; 4 (09) 1493-1498
    CrossrefPubMedSearch in Google Scholar
  • 2 Hyman DB, Tanaka K. Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients. J Clin Invest 1984; 73 (03) 778-784
    CrossrefPubMedSearch in Google Scholar
  • 3 Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet 2003; 121C (01) 38-52
    CrossrefPubMedSearch in Google Scholar
  • 4 Kölker S, Christensen E, Leonard JV. et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007; 30 (01) 5-22
    CrossrefPubMedSearch in Google Scholar
  • 5 Boy N, Mühlhausen C, Maier EM. et al. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision. J Inherit Metab Dis 2023; 46 (03) 482-519
    CrossrefPubMedSearch in Google Scholar