Affiliation:
1. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Abstract
The term «homocystinuria» combines a number of genetically determined nosological forms caused by defects of the metabolism of sulfur-containing amino acids (methionine, homocysteine), cobalamin and folate. The group of these diseases includes «classical» homocystinuria caused by insufficiency of cystathionine beta-synthase and forms associated with defects in methionine remethylation processes. More information is given about one of these forms — homocystinuria and megaloblastic anemia, type cblG, caused by MTR gene mutations. The results of observation of a child with this disease are presented. The clinical status includes: intellectual disability, autistic behavioral traits, stereotypes, nystagmus, visual impairment, macrocytic anemia, epilepsy in remission. Effective treatment requires the use of medications not registered in the Russian Federation — betaine and hydroxocobalamin.
Publisher
The National Academy of Pediatric Science and Innovation
Subject
Pediatrics, Perinatology and Child Health
Reference10 articles.
1. Waters D., Adeloye D., Woolham D., Wastnedge E., Patel S., Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health 2018; 8(2): 021102. DOI: 10.7189/jogh.08.021102
2. Delanne J., Bruel A.L., Huet F., Moutton S., Nambot S., Grisval M. et al. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders. Mol Genet Metab Rep 2021; 29: 100812. DOI: 10.1016/j.ymgmr.2021.100812
3. Huemer M., Diodato D., Schwahn B. Schiff M., Bandeira A., Benoist J.-F. et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disordes cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 2017; 40(1): 21–48. DOI: 10.1007/s10545–016–9991–4
4. Semyachkina A.N., Voskoboeva E.Yu., Voinova V.Yu, Kurbatov M.B., Novikova I.M., Zakharova E.Yu., Novikov P.V. Clinical and genetic aspects and pathogenetic mechanisms of classical homocystinuria in children. Rossiyskiy vestnik perinatologii i pediatrii 2013; 58(3): 30–37. (in Russ.)
5. Semyachkina A., Voskoboeva E., Yablonskya M., Nikolaeva E. Clinical and Molecular Characteristics of Russian Patients with Homocystinuria due to Cystathionine Beta-Synthase Deficiency. J Neurol Neurophysiol 2018; 9: 458. DOI: 10.4172/2155–9562.1000458