Results 81 to 90 of about 13,177 (269)

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

BMC Medical Genetics, 2018
BackgroundWe sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene variants, and perform prenatal ...
Shuang Hu, S. Mei, N. Liu, X. Kong
semanticscholar   +1 more source

Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Pyridox(am)ine 5′‐phosphate oxidase (PNPO) deficiency is an ultrarare inherited neurometabolic disease, characterized by primarily neonatal‐onset B6‐responsive epileptic encephalopathies. Treatment often requires sustainable access to high‐quality pyridoxal‐5′‐phosphate (PLP, i.e., active vitamin B6), although some patients (also) respond to ...
Nina N. Stolwijk, Laura van Dussen, Niels D. Reijnhout, Marion M. M. G. Brands, Bregje Jaeger, Peter T. Clayton, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos   +4 more
doaj   +1 more source

Influence of homocysteine on the physical structure and molecular mobility of elastin network in cultured arteries [PDF]

, 2009
The thermal and dielectric properties of the elastin network were investigated in arteries cultured with physiological and pathological concentrations of homocysteine, an aminoacid responsible of histological impairments in human arteries.
Chareyre, Corinne, Charpiot, Philippe, Dandurand, Jany, Foucault-Bertaud, Alexandrine, Lacabanne, Colette, Lamy, Edouard, Samouillan, Valérie   +6 more
core   +2 more sources

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme [PDF]

, 2008
The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots.
AE ten Hoedt, B Wilcken, D. E. Castiñeiras, E Martins, F. J. Corrales, G Andria, H Tada, HJ Blom, I Perez-Mato, J. M. Fraga, M Ito, M Linnebank, M Nagao, M. D. Bóveda, M. I. Mora, M. L. Couce, ME Chamberlin, ME Chamberlin, ME Chamberlin, NE Braverman, R Surtees, S Hazelwood, S. H. Mudd, SH Mudd, SH Mudd, SH Mudd, SH Mudd, SP Stabler, SZ Kim, T Ubagai, WA Gahl, Y Chien   +31 more
core   +1 more source

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.

Handbook of Experimental Pharmacology, 2018
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymatic degradation of homocysteine, a toxic intermediate of methionine transformation to cysteine ...
T. Majtan, A. Pey, Paula Giménez-Mascarell, L. A. Martínez-Cruz, C. Szabó, V. Kožich, J. Kraus   +6 more
semanticscholar   +1 more source

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González, Carolina Arias, Jean‐Marie Saudubray, Roser Colomé‐Roura, Ángeles García‐Cazorla   +4 more
wiley   +1 more source

Ocular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis

TNOA Journal of Ophthalmic Science and Research, 2020
Microspherophakia is a developmental lens anomaly characterized by increased anteroposterior diameter and reduced equatorial diameter, which predisposes to secondary glaucoma. A 12-year-old boy presented with diminution of vision.
Damaris Magdalene, Ronel Soibam, Riddhi Raichura, Saurabh Deshmukh, Surpriya Hawaibam, Krati Gupta   +5 more
doaj   +1 more source

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

Oxidative Medicine and Cellular Longevity, 2018
Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and homeostasis.
E. Richard, L. Gallego-Villar, A. Rivera-Barahona, A. Oyarzábal, B. Pérez, P. Rodríguez-Pombo, L. Desviat   +6 more
semanticscholar   +1 more source

The disease‐linked R336C mutation in cystathionine β‐synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity

The FEBS Journal, Volume 292, Issue 18, Page 4933-4954, September 2025.
Cystathionine β‐synthase (CBS) is an essential enzyme involved in cysteine metabolism, where it combines homocysteine and serine to form cystathionine, the immediate precursor of cysteine. The R336C mutation, which has a high prevalence in Qatar and is associated with a severe form of the amino acid metabolism disorder homocystinuria, reduces CBS ...
Carolina Conter, Reyes Núñez‐Franco, Duaa Walid Al‐Sadeq, Carmen Fernández‐Rodríguez, Naroa Goikoetxea‐Usandizaga, Gheyath K. Nasrallah, Michail Nomikos, Maria Luz Martinez‐Chantar, Alessandra Astegno, Gonzalo Jiménez‐Osés, Luis Alfonso Martínez‐Cruz   +10 more
wiley   +1 more source