Results 11 to 20 of about 6,563 (194)

Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism? [PDF]

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, Elaine Murphy, MRCP, FRCPath, Amr Raheem, MB BCh, PhD, David Ralph, BSc, MS FRCS(Urol)   +3 more
doaj   +4 more sources

FEVR-Like Presentation of Homocystinuria [PDF]

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, Vincent D. Venincasa, Hassan A. Aziz, Ditte Hess, Audina M. Berrocal   +4 more
doaj   +2 more sources

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, Neda Mostofizadeh, Mahin Hashemipour   +2 more
doaj   +2 more sources

Homocystinuria in Children

Вопросы современной педиатрии, 2018
Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of  sulphur-containing amino acids, primarily methionine.
Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina   +18 more
doaj   +2 more sources

Homocystinuria presenting as a calcified right atrial mass

Annals of Pediatric Cardiology, 2018
Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous ...
Tahleel Altaf Shera, Naseer Ahmed Choh, Faiz Altaf Shera, Azher Maqbool Khan   +3 more
doaj   +2 more sources

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, David S., Lerner-Ellis, Jordan P, Stucki, Martin, Suormala, T, Baumgartner, Matthias R; https://orcid.org/, Baumgartner, Matthias R., Fowler, Brian, Lerner-Ellis, Jordan P., Newbold, R F, Newbold, Robert F, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, Robert F., Rosenblatt, D S, Coelho, David, Suormala, Terttu, Rosenblatt, David S, Stucki, M, Baumgartner, M R   +19 more
core   +7 more sources

Betaine anhydrous in homocystinuria: results from the RoCH registry [PDF]

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

Delay in Diagnosis of Classical Homocystinuria. [PDF]

JIMD Rep
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Wanninayake S, Sharma R, Green D, Bassett J, Geberhiwot T, Dawson C.   +5 more
europepmc   +2 more sources

A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria. [PDF]

Clin Case Rep
ABSTRACT We report a 39‐year‐old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye.
Asadollahzadeh E, Rezaei A, Shahmaei V, Johari MS, Sahraian MA.   +4 more
europepmc   +2 more sources

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