Results 51 to 60 of about 4,846 (139)

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

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   +1 more source

Vitamin B12 and Reproductive Health: Clinical Insights, Emerging Mechanistic Understanding, and Nutritional Aspects

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT Epidemiological data from assisted reproductive technologies (ART) link vitamin B12 (VitB12) deficiency to shorter gestation, low birth weight, and reduced live birth rates. VitB12 also plays a critical role in fertility for both sexes by supporting gamete quality.
Aimee Rachel Mathew, Erisa Selita, Chiara Regano, Claudia Bianco, Veronica Corsetti, Virve Cavallucci, Sandra Moreno, Ada Maria Tata, Marco Fidaleo   +8 more
wiley   +1 more source

Homocystinuria and early onset schizophrenia: a case report

Psychiatry and Clinical Psychopharmacology, 2021
Although schizophrenia is known as a late adolescence or early adulthood disorder psychotic symptoms can be seen in children. Schizophrenia which begins before 17-18 years of age is named as “early onset schizophrenia” and before age of 13 is named as ...
Cumhur Taş, Ayşen Esen Danacı
doaj  

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency

BMC Medical Genomics, 2022
Background Homocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. The purpose of this study is to expand the mutation site of the MTHFR gene and provide genetic counseling for this family ...
Yitong Lu, Shaozhi Zhao, Xiaohui He, Hua Yang, Xiaolei Wang, Chen Miao, Hongwei Liu, Xinwen Zhang   +7 more
doaj   +1 more source

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   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

A case series of Pyridoxine Resistant Classical Homocystinuria

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2019
Homocystinuria is an autosomal recessive disorder with the prevalence of 1;200000. It is due to the defect in the Methionine metabolism which results in accumulation of Homocysteine in the body. We report a series of patients with Homocystinuria followed
Imalke Kankananarachchi, Thilina Madushanka Munasinghe, Nayana Liyanarachchi, Sujeewa Amarasena   +3 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 ...
Alexander Asamoah, Sainan Wei, Kelly E. Jackson, Joseph H. Hersh, Harvey Levy   +4 more
doaj   +1 more source