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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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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Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects [PDF]
, 2016 Proper function of endoplasmic reticulum (ER) and mitochondria is crucial for cellular homeostasis, and dysfunction at either site as well as perturbation of mitochondria-associated ER membranes (MAMs) have been linked to neurodegenerative and metabolic ...
Desviat, Lourdes R. +4 more
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FEVR-Like Presentation of Homocystinuria
Case Reports in Ophthalmological Medicine, 2014 A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria.
Lorena A. Montalvo +4 more
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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
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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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Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]
, 2015 Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins +25 more
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Homocystinuria with Stroke and Positive Familial History
Advanced Biomedical Research, 2017 Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities.
Ali Mazaheri +2 more
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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
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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
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