Results 11 to 20 of about 4,948 (165)

Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance

JIMD Reports
Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications.
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 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

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity. [PDF]

Clin Case Rep
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Pellegrin MC, Tamaro G, Fachin A, Barbi E, Tornese G.   +4 more
europepmc   +2 more sources

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, Elaine Murphy, MRCP, FRCPath, Amr Raheem, MB BCh, PhD, David Ralph, BSc, MS FRCS(Urol)   +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, Eugenia A. Isupova, Mikhail M. Kostik   +2 more
doaj   +1 more source

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

International Journal of Neonatal Screening, 2021
Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway.
Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada   +12 more
doaj   +1 more source

Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes

Frontiers in Pediatrics, 2022
Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined type) using
Ying Liu, Ling Yang, Ruixue Shuai, Suqiu Huang, Bingyao Zhang, Lianshu Han, Kun Sun, Yurong Wu   +7 more
doaj   +1 more source

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, Vincent D. Venincasa, Hassan A. Aziz, Ditte Hess, Audina M. Berrocal   +4 more
doaj   +1 more source

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   +1 more source