Results 21 to 30 of about 13,177 (269)

Homocystinuria diagnosis and management: it is not all classical

Journal of Clinical Pathology, 2022
Homocystinuria (HCU) refers to a group of inherited disorders of homocysteine metabolism associated with high blood homocysteine concentration, thromboembolic tendency and neurocognitive symptoms.
A. Gerrard, C. Dawson
semanticscholar   +1 more source

Homocystinuria and ocular complications – A review

Indian Journal of Ophthalmology, 2022
Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine.
M. Rahman, Mohita Sharma, P N Aggarwal, Silkee Singla, Neha Jain   +4 more
semanticscholar   +1 more source

Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria

British Journal of Pharmacology, 2022
Cystathionine beta‐synthase (CBS)‐deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The pyridoxine non‐responsive form of the disease manifests itself by massively increasing plasma and tissue concentrations ...
T. Majtan, V. Kožich, W. Kruger
semanticscholar   +1 more source

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

Orphanet Journal of Rare Diseases, 2021
Background The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life.
T. Morrison, F. Bösch, M. Landolt, V. Kožich, M. Huemer, A. Morris   +5 more
semanticscholar   +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

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

International Journal of Neonatal Screening, 2021
Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to ...
A. Asamoah, Sainan Wei, K. Jackson, J. Hersh, H. Levy   +4 more
semanticscholar   +1 more source

A case series of cerebral venous thrombosis as the first manifestation of homocystinuria

European Stroke Journal, 2021
Background Cerebral venous thrombosis (CVT) is an important cause of stroke particularly in younger patients and potentially fatal if diagnosis is delayed.
Antonio Ochoa-Ferraro, Subadra Wanninayake, C. Dawson, A. Gerrard, M. Preece, T. Geberhiwot   +5 more
semanticscholar   +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

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

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

Molecular Genetics & Genomic Medicine, 2020
Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39–1.73:100,000] according to clinical records and 1.09:
Giovana R Weber Hoss, Fernanda Sperb-Ludwig, I. Schwartz, H. Blom   +3 more
semanticscholar   +1 more source