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Diagnosis and management of glutaric aciduria type I – revised recommendations
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
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
Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)
X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromiaExpand
Iron-responsive elements: regulatory RNA sequences that control mRNA levels and translation.
The 3' untranslated region of the mRNA for the human TfR was shown to be necessary and sufficient for iron-dependent control of mRNA levels and an mRNA element has been implicated in the mediation of distinct regulatory phenomena dependent on the context of the element within the transcript. Expand
Evidence that the pathway of transferrin receptor mRNA degradation involves an endonucleolytic cleavage within the 3′ UTR and does not involve poly(A) tail shortening.
Site‐directed mutagenesis demonstrates that the sequence surrounding the mapped endonuclease cleavage site is required for both iron‐regulated mRNA turnover and generation of the truncated degradation intermediate of the transferrin receptor mRNA. 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
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
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.
The phenotype of a mouse model of GA-I generated via targeted deletion of the Gcdh gene in embryonic stem cells is described, where the affected mice have a mild motor deficit but do not develop the progressive dystonia seen in human patients. Expand
Autoregulation of human thymidylate synthase messenger RNA translation by thymidylate synthase.
These studies suggest that translation of TS mRNA is controlled by its own protein end product, TS, in an autoregulatory manner. Expand
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
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
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Expand