Results 91 to 100 of about 12,812 (223)
Journal of Inherited Metabolic Disease, 2023 Glutaric aciduria type 1 (GA1) is caused by inherited deficiency of glutaryl‐CoA dehydrogenase (GCDH). To further understand the unclear genotype–phenotype correlation, we transfected mutated GCDH into COS‐7 cells resembling known biallelic GCDH variants
Yuheng Yuan +5 more
semanticscholar +1 more source
Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro +6 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2019 Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the ...
Felix-Julian Campos-Garcia +8 more
doaj +1 more source
Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]
, 2015 This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
core
Trial Readiness: Understanding the Natural History of Rare Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen +6 more
wiley +1 more source
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]
, 2009 Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara jo +44 more
core +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof +22 more
wiley +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
Molecular Genetics and Metabolism Reports, 2014 Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae.
Ben Pode-Shakked +7 more
doaj +1 more source
Analysis of polymorphic marker rs9384 located in the GCDH gene region associated with glutaricaciduria type 1. [PDF]
, 2016 زمینه و هدف: گلوتاریک اسید یوریای نوع 1 نوعی اختلال متابولیکی عصبی می باشد که در اثر جهش در ژن رمز کننده آنزیم گلوتاریل کوآدهیدروژناز (GCDH) ایجاد می شود.
Badr, Zahra. +3 more
core