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Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.
J Inherit Metab Dis
January 2025
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Article Synopsis
- Cobalamin C (Cbl-C) defect leads to serious health issues like methylmalonic acidemia and cognitive impairment, but treatment with hydroxocobalamin (OH-Cbl) doses remains uncertain.
- * A study compared high-dose OH-Cbl treatment in newborn screening (NBS)-diagnosed patients to low-dose treatment in other groups, showing that the high-dose group had significantly better metabolic and neurodevelopmental outcomes.
- * Results indicated that while high-dose treatment improved overall health markers and cognitive performance, it did not affect the incidence of maculopathy, signaling a need for clearer dosing guidelines in Cbl-C treatment.*
Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.
Endocr Metab Immune Disord Drug Targets
October 2023
Centro Hospitalar de Lisboa Central Metabolic Diseases Unit, Pediatric Department, Reference Center of Inherited Metabolic Diseases Lisbon Portugal.
Article Synopsis
- Vitamin B12 (cobalamin) metabolism disorders lead to different health issues based on where the metabolic pathway is disrupted, resulting in conditions like combined methylmalonic acidemia and homocystinuria or isolated forms of these diseases.* -
- A study was conducted on patients with these disorders over 23 years, revealing varied clinical presentations, such as severe symptoms at birth or developmental delays, highlighting the diverse impact of these conditions.* -
- The findings align with existing literature on these disorders, emphasizing the need for early diagnosis and tailored treatments, such as betaine or hydroxycobalamin, which were administered to all patients in the study.*
Dental complications in homocystinurias.
Mol Genet Metab Rep
September 2023
UPMC Children's Hospital of Pittsburgh, Department of Pediatric Dentistry, Pittsburgh, PA, United States of America.
Background: Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth, but little has been said about other oral health complications. Other homocystinurias (, the remethylation defects) also have had little reported in terms of oral health. Individuals with the homocystinurias have been described as having bone density issues which can correlate with oral health.
View Article and Find Full Text PDFThe challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.
JIMD Rep
September 2021
National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street Dublin Ireland.
Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now having families of their own. This poses challenges both for the metabolic control of the mother and potential secondary effects on the fetus, as well as the risk of inheriting the inborn error.
View Article and Find Full Text PDF[Remethylation disorders: about two cases].
Ann Biol Clin (Paris)
December 2020
Service de biochimie et génétique moléculaire, CHU Clermont-Ferrand, Clermont-Ferrand, France, Service de biochimie, Faculté de médecine et des professions paramédicales, Université Clermont Auvergne, CNRS UMR 6293, Inserm U1103, Clermont-Ferrand, France.
In order to propose a course of action to be taken in the face of any hyperhomocysteinemia, we have reported for the first time in a French journal the recommendations made within the framework of the European E-HOD project for the diagnosis and treatment of remethylation disorders. The remethylation route ensures homocysteine-methionine conversion. It is linked to the folate cycle and the intracellular metabolism of cobalamins.
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