Results 11 to 20 of about 2,741,348 (370)
Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults. [PDF]
Ann Clin Transl Neurol, 2020 D‐2‐hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy/early childhood with seizures and significant central nervous system involvement.
Tabarestani S +5 more
europepmc +2 more sources
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Arshad Khushdil +3 more
core +2 more sources
Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review. [PDF]
Mol Genet Metab RepBranched-chain amino acid transferase type 2 (BCAT2) deficiency is a rare autosomal recessive genetic condition, with only seven cases described to date.
Mondésert E +9 more
europepmc +2 more sources
Is susceptibility to severe COVID-19 disease an inborn error of metabolism? [PDF]
J Inherit Metab Dis, 2020 Clayton, PT
core +2 more sources
International Journal of Endocrinology, 2022 Home quarantine due to the global coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on children. Lifestyle changes have led to an increase in precocious puberty (PP) among girls, and the underlying risk factors for this remain ...
Dongxia Fu +7 more
doaj +1 more source
Citrulline in the management of patients with urea cycle disorders
Orphanet Journal of Rare Diseases, 2023 Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard +10 more
doaj +1 more source
Biomedicines, 2021 Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism.
Elise Lebigot +2 more
doaj +1 more source
Isovaleric Acidemia as a Rare Cause for Bad Obstetric History [PDF]
Journal of Clinical and Diagnostic Research, 2021 Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels ...
Sailatha Ramanujam +3 more
doaj +1 more source
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Nature Communications, 2022 Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau +15 more
doaj +1 more source
Clinical Pathology, 2022 Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia
Anasufiza Habib +1 more
doaj +1 more source