Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence [PDF]
JIMD Reports, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Bernd C. Schwahn +10 more
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Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years [PDF]
Korean Journal of Pediatrics, 2010 Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient ...
Se Jung Oh +3 more
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A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report [PDF]
Journal of International Medical ResearchHomocystinuria, an autosomal recessive metabolic disorder, is caused by cystathionine β-synthase deficiency and presents with diverse clinical manifestations, including ectopia lentis, osteoporosis, scoliosis, premature arteriosclerosis, thromboembolism,
Xingyu Xu +4 more
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Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria [PDF]
BiomedicinesBackground: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu +5 more
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Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency [PDF]
BMC Medical Genomics, 2022 Background Homocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. The purpose of this study is to expand the mutation site of the MTHFR gene and provide genetic counseling for this family ...
Yitong Lu +7 more
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Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria [PDF]
JIMD ReportsHomocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan ...
Hewa Warawitage Dilanthi +10 more
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Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study. [PDF]
Ann Med Surg (Lond)Alzwaihri AS +5 more
europepmc +2 more sources
Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy
Revista da Sociedade Brasileira de Medicina Tropical, 2022 Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic
Nurhayat Yakut +2 more
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Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria
Case Reports in Psychiatry, 2021 Homocystinuria is a rare autosomal recessive metabolic disorder due to a defect in the cystathionine β-synthase (CBS) that leads to high homocysteine plasma levels.
Vera Froes, Hugo Afonso, Zita Gameiro
doaj +1 more source