Results 11 to 20 of about 4,846 (139)

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

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

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria [PDF]

JIMD Reports
Homocystinuria 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, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge   +10 more
doaj   +2 more sources

A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria. [PDF]

Clin Case Rep
ABSTRACT We report a 39‐year‐old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye.
Asadollahzadeh E, Rezaei A, Shahmaei V, Johari MS, Sahraian MA.   +4 more
europepmc   +2 more sources

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria. [PDF]

Mol Genet Genomic Med
Schematic representation of the study design and findings. Whole‐exome sequencing identified compound heterozygous CBS variants (c.1006C>T and c.1061_1069del) in a Chinese family with classical homocystinuria. Structural modeling, Western blotting, and enzyme activity assays revealed that the novel deletion variant impaired CBS folding and abolished ...
Zhang J, Lin X, Liu X, Lu Y, Tao D, Yu D, Ma Y.   +6 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, Behzat Tuzun, Nurcan Ucuncu Ergun   +2 more
doaj   +1 more source

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

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

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

International Journal of Neonatal Screening, 2021
Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway.
Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada   +12 more
doaj   +1 more source

Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes

Frontiers in Pediatrics, 2022
Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined type) using
Ying Liu, Ling Yang, Ruixue Shuai, Suqiu Huang, Bingyao Zhang, Lianshu Han, Kun Sun, Yurong Wu   +7 more
doaj   +1 more source