Results 51 to 60 of about 4,782 (139)

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

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

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

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  

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

Cardiovascular findings in classic homocystinuria

Molecular Genetics and Metabolism Reports, 2020
Objective: describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria Methods: this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years;
Marco Antônio Baptista Kalil, Karina Carvalho Donis, Fabiano de Oliveira Poswar, Bruna Bento dos Santos, Ângela Barreto Santiago Santos, Ida Vanessa Doederlein Schwartz   +5 more
doaj   +1 more source

Neonatal Spontaneous Abdominal Aortic Thrombosis Associated With Hypernatremic Dehydration and Acute Renal Failure: A Case Series

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Spontaneous abdominal aortic thrombosis in neonates due to various causes is a known entity. Hypernatremic dehydration with acute kidney injury/failure can also be one of the aetiologies. A 14‐ and 11‐day‐old term neonate born to primigravida mothers presented to two different facilities with a similar presentation of hypernatremic dehydration
Fauzia Ali Noor, Asha S. Hashi, Rohini Kalagouda Patil, Kennedy Khainga, David Galgallo, Doris Kinuthia, Diana Marangu, Fred Kambuni, Nyambura Karuiki, Naomi Gachara   +9 more
wiley   +1 more source

Homocysteine: Canary in the Coal Mine or Hidden Threat? A Biochemical Study on the Role of Plasma Thiols

The FASEB Journal, Volume 39, Issue 13, 15 July 2025.
The figure illustrates how high plasma glutathione levels can promote the dethiolation of homocysteinylated proteins, leading to the release of homocysteine. The freed homocysteine is then either excreted through the kidneys or further processed via cellular metabolism, supporting homocysteine clearance and metabolic balance.
Daniela Giustarini, Sante Colella, Isabella Dalle‐Donne, Ranieri Rossi   +3 more
wiley   +1 more source

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

Biology, 2015
An association between sulfur amino acids (methionine, cysteine, homocysteine and taurine) and lipid metabolism has been described in several experimental and population-based studies.
Soraia Poloni, Henk J. Blom, Ida V. D. Schwartz   +2 more
doaj   +1 more source

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition.
Eimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, Caoimhe Howard, Yusra Sheikh, Bryan Lynch, Ellen Crushell, Ina Knerr   +7 more
wiley   +1 more source