Results 11 to 20 of about 13,177 (269)

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   +2 more sources

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, Amir A. Ahmed, Naser M. Ali, Ahmad Alahmad, Buthaina Albash, Reem M. Elshafie, Sumaya Alkanderi, Usama M. Elkazzaz, Parakkal Xavier Cyril, Rehab M. Abdelrahman, Alaa A. Elmonairy, Samia M. Ibrahim, Yasser M. E. Elfeky, Doaa I. Sadik, Sara D. Al-Enezi, Ayman M. Salloum, Yadav Girish, Mohammad Al-Ali, Dina G. Ramadan, Rasha Alsafi, May Al-Rushood, Laila Bastaki   +21 more
doaj   +2 more sources

Health Functionalities of Betaine in Patients With Homocystinuria

Frontiers in Nutrition, 2021
Homocystinuria is a medical condition that can have widespread and harmful effects on multiple organ systems within the body. This disease is caused by a deficiency in one of the enzymes involved in the methionine metabolism pathway. One example would be
Chelsea Truitt, Wouter D. Hoff, Ratnakar Deole   +2 more
doaj   +2 more sources

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Molecular Genetics & Genomic Medicine, 2021
Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11
Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park   +5 more
doaj   +2 more sources

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

International Journal of Neonatal Screening, 2020
Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977.
Kenji Yamada, Kazunori Yokoyama, Kikumaro Aoki, Takeshi Taketani, Seiji Yamaguchi   +4 more
doaj   +2 more sources

Betaine anhydrous in homocystinuria: results from the RoCH registry

Orphanet Journal of Rare Diseases, 2019
Background The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®)
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot   +21 more
doaj   +2 more sources

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland

JIMD Reports, 2019
Background Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens
John Allen, Bronwyn Power, Aida Abedin, Orla Purcell, Ina Knerr, Ahmad Monavari   +5 more
doaj   +2 more sources

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria [PDF]

Nutrients, 2023
Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders and neonatal vitamin ...
Elena Schnabel‐Besson, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang‐Hoffmann, Marina Morath, Gwendolyn Gramer, Wulf Röschinger, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Ulrike Mütze   +13 more
openalex   +2 more sources

Cardiovascular findings in classic homocystinuria

Molecular Genetics and Metabolism Reports, 2020
Objective: describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria Methods: this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years;
Marco Antônio Baptista Kalil, Karina Carvalho Donis, Fabiano de Oliveira Poswar, Bruna Bento dos Santos, Ângela Barreto Santiago Santos, Ida Vanessa Doederlein Schwartz   +5 more
doaj   +2 more sources

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population [PDF]

Journal of Inherited Metabolic Disease, 2019
Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural history and clinical manifestations
Nader Al‐Dewik, Alaa Ali, Yassmin Mahmoud, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Mariam Al‐Mureikhi, Fatma Al‐Mesaifri, Sara Musa, Karen El‐Akouri, Mariam AlMulla, Reem Al Saadi, Gheyath K. Nasrallah, Muthanna Samara, Ghassan Abdoh, Hilal Al Rifai, Johannes Häberle, Beat Thöny, Warren D. Kruger, Henk J. Blom, Tawfeg Ben‐Omran   +20 more
openalex   +2 more sources