Results 71 to 80 of about 11,541 (279)
Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease
CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He +4 more
wiley +1 more source
Journal of Rawalpindi Medical College, 2018 Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Urine Disease (MSUD) and congential adrenal hyperplasia (CAH) are autosomal recessive diseases, with an increased risk of transmission amongst progeny of ...
Hafiz Armaghan Saeed et al.,
doaj
Catabolism of Branched-Chain Amino Acids in Heart Failure: Insights from Genetic Models [PDF]
, 2011 Genetic defects in amino acid metabolism are major causes of newborn diseases that often lead to abnormal development and function of the central nervous system.
Chen, Jaunian +4 more
core +3 more sources
Applied Sciences, 2020 Metabolic errors are inherited diseases, where genetic defects prevent a metabolic path, ending up in enzyme malfunction. In correspondence to its remaining or plenitude fall of enzymatic potency, there is an amassment of dangerous metabolites near the ...
Sophia Karastogianni, S. Girousi
semanticscholar +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.Mitochondrial short‐chain enoyl‐CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by mutations in the ECHS1 gene. Two Chinese families with inborn errors of metabolism were diagnosed using whole‐exome sequencing, revealing one novel variant (c.759_762del, p.Gly255Valfs*21) in the ECHS1 gene.
Jihua Wu +4 more
wiley +1 more source
Food for thought : palatable eponyms from Pediatrics [PDF]
, 2014 Food-related medical terms are frequently used in the field of pediatrics for the definition, recognition and diagnosis of disease. Almost 40 food-related medical eponyms used in Pediatrics have been ‘cherry picked’ and described by the authors.
Kipersztok, Lisa, Masukume, Gwinyai
core
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Human milk (HM) is the optimal source of nutrition for infants. Yet the suitability of HM macronutrient composition, paired with the challenge of regulating HM intake, may deserve some consideration for infants with inherited metabolic disorders (IMDs) requiring restrictive and controlled dietary management. Except for classic galactosemia, HM
Fatma Ilgaz +14 more
wiley +1 more source
Maple syrup urine disease: Role of diffusion-weighted magnetic resonance imaging [PDF]
Maple syrup urine disease (MSUD)/leucine encephalopathy is an inborn error of amino acid metabolism resulting in neurotransmitter depletion, disrupted brain growth and development.
Narra, Ramakrishna +3 more
core +2 more sources
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2015 Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic ...
P.S. Atwal, C. Macmurdo, P.C. Grimm
doaj +1 more source