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Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance [PDF]

JIMD Reports
Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications.
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 more
doaj   +3 more sources

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   +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, Behzat Tuzun, Nurcan Ucuncu Ergun   +2 more
doaj   +2 more sources

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report [PDF]

Journal of International Medical Research
Homocystinuria, 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, Zihan He, Yiwei Shen, Jianfeng Zhao, Yu Geng   +4 more
doaj   +2 more sources

Homocystinuria presenting with cerebral venous thrombosis: a case report highlighting progressive thrombosis [PDF]

Frontiers in Cardiovascular Medicine
BackgroundHomocystinuria is a hereditary metabolic disorder primarily caused by defects in enzymes involved in methionine metabolism, resulting in excessive accumulation of homocysteine and its metabolites in the blood and urine.
Xiaomin Cui, Jinjing Chen, Jing Wang, Dezhi Qiu, Xianli Zhang   +4 more
doaj   +2 more sources

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives [PDF]

Frontiers in Nutrition
Cobalamin (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, Pradeep Kumar Gunasekaran, Asuri Narayan Prasad   +2 more
doaj   +2 more sources

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria [PDF]

Biomedicines
Background: 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, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +2 more sources

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, Yong Hee Hong, Yong Wha Lee, Dong Hwan Lee   +3 more
doaj   +1 more source

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, Nirupama Kasturi, Amit Kumar Deb, P Jayasri, Subashini Kaliaperumal   +4 more
doaj   +1 more source

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
doaj   +1 more source