Results 21 to 30 of about 4,846 (139)
Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients. [PDF]
J Inherit Metab DisABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Heinken A +5 more
europepmc +2 more sources
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
doaj +1 more source
Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?
Sexual Medicine, 2018 We report on the 1st case of ischemic priapism secondary to poorly controlled homocystinuria. Homocystinuria is a rare, autosomal recessive, inherited disorder of metabolism that is caused by a deficiency of cystathionine synthase, leading to marked ...
Mark Johnson, BSc, MBChB +3 more
doaj +1 more source
Homocystinuria: Literature Review and Clinical Case Description
Вопросы современной педиатрии, 2019 Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit.
Natalia V. Buchinskaya +2 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
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
doaj +1 more source
International Journal of Neonatal Screening, 2020 Glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency and maple syrup urine disease are all inborn errors of metabolism that can be detected through newborn bloodspot screening.
Alice Bessey +3 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience
International Journal of Neonatal Screening, 2021 Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders.
Hind Alsharhan +21 more
doaj +1 more source