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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Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives [PDF]
Frontiers in NutritionCobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact on neurological health has evolved.
Arushi Gahlot Saini +2 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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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
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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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Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management
Kerala Journal of Ophthalmology, 2023 A 13-year-old girl with a systemic diagnosis of homocystinuria (methylenetetrahydrofolate reductase deficiency type) associated with intellectual disability, skeletal abnormalities (genu varum, kyphoscoliosis, and arachnodactyly), and pancytopenia ...
Mary Stephen +4 more
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Congenital cataract: An ocular manifestation of classical homocystinuria
Molecular Genetics & Genomic Medicine, 2021 Background Homocystinuria is an autosomal recessive metabolic disorder occurring due to the defects in cystathionine‐β‐synthase enzyme. The study was carried out to investigate a Pakistani family presenting bilateral congenital cataract with symptoms of ...
Neelam Saba, Saba Irshad
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Early Development of Newborn Screening for HCU and Current Challenges
International Journal of Neonatal Screening, 2021 Classic homocystinuria (HCU) was added to newborn screening (NBS) by Robert Guthrie a few years after the disorder was first described. The justification for NBS was similar to that for PKU, that presymptomatic identification and early dietary treatment ...
Harvey L. Levy
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Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction. Homocystinuria is an autosomal recessively inherited defect leading to hyperhomocysteinemia and associated with ocular manifestations, mainly myopia and ectopia lentis. Case outline.
Jelić-Vuković Marija +5 more
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