Results 31 to 40 of about 4,948 (165)

Lens subluxation in a patient with homocystinuria. Case report

Journal of Ophthalmology, 2021
Homocystinuria is an inborn error of metabolism caused by cystathionine b-synthetase deficiency, with autosomal recessive inheritance. The clinical picture is characterized by skeletal changes, mental deficit, lens subluxation, and a tendency to ...
Garduño-Vieyra Leopoldo, Flores Escobar Bruno   +1 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Anesthetic management of a child with homocystinuria

Journal of the Scientific Society, 2018
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine. It is most often diagnosed in childhood and has variable expressions. We report a case of a 7-year-old male
Chaitanya A Kamat, Manjunath C Patil, Guruprasad Shetty, Akshata Aravind Kulkarni   +3 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 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  

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

International Journal of Neonatal Screening, 2020
Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977.
Kenji Yamada, Kazunori Yokoyama, Kikumaro Aoki, Takeshi Taketani, Seiji Yamaguchi   +4 more
doaj   +1 more source

Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review

Radiology Case Reports, 2023
Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally.
Diar S. Hama-Karim, MD, Yad N. Othman, MBCHB, Zryan Salar Majeed, MBCHB, Razhan K. Ali, MBCHB, Arian Mohammed, MBCHB, Han Nihad Muhamad, PhD   +5 more
doaj   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source