Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria

Indian J Pediatr. 2024 Nov;91(11):1198. doi: 10.1007/s12098-024-05254-3. Epub 2024 Sep 3.

Authors

Vykuntaraju K Gowda¹, Annsmol P Markose², Varunvenkat M Srinivasan³, Viveka Santhosh C Reddy³

Affiliations

¹ Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. [email protected].
² Department of Pediatrics, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.
³ Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.

PMID: 39225921
DOI: 10.1007/s12098-024-05254-3

No abstract available

Publication types

Letter
Comparative Study

MeSH terms

Ataxia / etiology
Child
Child, Preschool
Cystathionine beta-Synthase* / deficiency
Cystathionine beta-Synthase* / genetics
Female
Homocystinuria* / complications
Humans
Infant
Male
Methylenetetrahydrofolate Reductase (NADPH2)* / deficiency
Methylenetetrahydrofolate Reductase (NADPH2)* / genetics
Muscle Spasticity / etiology
Psychotic Disorders

Substances

Methylenetetrahydrofolate Reductase (NADPH2)
Cystathionine beta-Synthase

Supplementary concepts

Methylenetetrahydrofolate reductase deficiency