Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
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What are the information needs of parents caring for a child with Glutaric aciduria type 1? [PDF]
, 2019 BACKGROUND: Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children.
Hart, Anthony R +3 more
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Taiwanese Journal of Obstetrics & Gynecology, 2018 Objective: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain ...
Hsiu-Huei Peng +2 more
doaj +1 more source
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I [PDF]
, 2015 Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail.
Boy, Nikolas +7 more
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A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1
Case Reports in Pediatrics, 2014 Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid.
S. Pusti, N. Das, K. Nayek, S. Biswas
doaj +1 more source
A rare case of type i glutaric aciduria in an early child
Медицинский вестник Юга России, 2020 Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH).
A. A. Lebedenko +8 more
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Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]
, 2017 Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf +6 more
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A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
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Infant death from glutaric aciduria type IIc
Forensic Science International: Reports, 2021 A full-term female baby born with an Apgar score of 10 exhibited a continual decrease in blood glucose and acid-base imbalance until she died at 40 h postpartum despite emergency rescue efforts.
Qi Miao +7 more
doaj +1 more source
Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by d-2-hydroxyglutaric acid in vitro [PDF]
, 1926 l-2-Hydroxyglutaric (LGA) and d-2-hydroxyglutaric (DGA) acids are the characteristic metabolites accumulating in the neurometabolic disorders known as l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria, respectively.
da Silva, Cleide G +8 more
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