Results 21 to 30 of about 6,563 (194)

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, Matić Suzana, Barać Josip, Novinščak Tomislav, Belovari Mirna, Barić Hrvoje   +5 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

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   +1 more source

Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report

Journal of Medical Case Reports, 2008
Introduction Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. Case presentation This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive ...
Maillot Francois, Kraus Jan P, Lee Philip J   +2 more
doaj   +1 more source

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

Subluxation of lens alarms to homocystinuria [PDF]

, 2016
Homocystinuria is a disorder of methionine metabolism. The term Homocystinuria refers as abnormally large amounts of homocystine are excreted in the urine.
Patel, Abhishek Mansinh, Sheikh, Khushnood M., Shastri, Manisha B.   +2 more
core   +1 more source

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Frontiers in Neurology, 2019
Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life.
Muhammad Wasim, Muhammad Wasim, Haq Nawaz Khan, Haq Nawaz Khan, Hina Ayesha, Susanna M. I. Goorden, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli Rabbi Awan, Fazli Rabbi Awan   +9 more
doaj   +1 more source

The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism

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, James Chilcott, Abdullah Pandor, Suzy Paisley   +3 more
doaj   +1 more source