Suspecting classical homocystinuria in an adolescent born before the newborn screening program

Authors

  • Fábia Ginja de Carvalho Department of Pediatrics, Hospital de Braga
  • Teresa Campos Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universitário São João
  • Joana Soares dos Reis Department of Pediatrics, Unidade II, Centro Hospitalar Vila de Nova Gaia/Espinho
  • Mariana Portela Department of Pediatrics, Hospital de Braga
  • Carla Vasconcelos Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universitário São João
  • Carla Ferreira Pediatric Intermediate Care Unit, Hospital de Braga
  • Arnaldo Cerqueira Pediatric Intermediate Care Unit, Hospital de Braga
  • Ângela Oliveira Pediatric Intermediate Care Unit, Hospital de Braga
  • Laura Vilarinho Neonatal Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge
  • Elisa Leão-Teles Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universitário São João
  • Esmeralda Rodrigues Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universitário São João

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v30.i1.18753

Keywords:

homocystinuria, neonatal screening, Homocystinuria; Newborn Screening; Sinus Thrombosis

Abstract

Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study.

Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism.

Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.

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References

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Published

2021-04-06

How to Cite

1.
de Carvalho FG, Campos T, dos Reis JS, Portela M, Vasconcelos C, Ferreira C, et al. Suspecting classical homocystinuria in an adolescent born before the newborn screening program. BGMJ [Internet]. 2021 Apr. 6 [cited 2025 Dec. 10];30(1):44-7. Available from: https://revistas.rcaap.pt/bgmj/article/view/18753

Issue

Vol. 30 No. 1 (2021)

Section

Clinical Case Reports

License

Copyright (c) 2021 Fábia Ginja de Carvalho, Teresa Campos, Joana Soares dos Reis, Mariana Portela, Carla Vasconcelos, Carla Ferreira, Arnaldo Cerqueira, Ângela Oliveira, Laura Vilarinho, Elisa Leão-Teles, Esmeralda Rodrigues

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