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Diagnosis and management of glutaric aciduria type I – revised recommendations
TLDR
The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline. Expand
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
TLDR
It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease. Expand
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
TLDR
It is concluded that neuron loss occurs shortly after the encephalopathical crisis and does not progress, and the pathogenesis of selective neuronal loss cannot be explained on the basis of regional genetic and/or metabolic differences. Expand
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*
TLDR
It is reported that MMA induces neuronal damage in cultures of embryonic rat striatal cells at a concentration range encountered in affected patients, and the involvement of secondary excitotoxic mechanisms in MMA-induced cell damage is suggested. Expand
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
TLDR
The results favour the hypothesis that toxic metabolites, in particular propionyl-CoA, are involved in the pathogenesis of inherited disorders of propionate metabolism, sharing mechanistic similarities with Propionate toxicity in micro-organisms. Expand
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
TLDR
Investigation of L-lysine metabolism showed an accumulation of deuterium-labeled 2-oxoadipate only in noncomplemented cells, demonstrating that DHTKD1 codes for the enzyme mediating the last unresolved step in the L- Lysine-degradation pathway. Expand
Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl‐CoA
TLDR
It is proposed that an intracerebral de’novo synthesis and subsequent trapping of GA and 3‐OH‐GA should be considered as a biochemical risk factor for neurodegeneration in GCDH deficiency. Expand
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
TLDR
It is hypothesized that neuroradiological abnormalities and neurological symptoms in glutaric aciduria type I can be explained by overlaying episodes of cerebral alterations including maturational delay of the brain in utero, acute striatal injury during a vulnerable period in infancy and chronic progressive changes that may continue lifelong. Expand
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
TLDR
Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi, and recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever. Expand
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
TLDR
The major aim of this guideline is to re-assess the common practice and to formulate recommendations for diagnosis and management of GCDH deficiency based on the best available evidence. Expand
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