Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

@article{Boy2016ProposedRF,
  title={Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision},
  author={Nikolas Boy and Chris M{\"u}hlhausen and Esther M. Maier and Jana Heringer and Birgit E Assmann and Peter Burgard and Marjorie Dixon and Sandra Fleissner and Cheryl R. Greenberg and Inga Harting and Georg F. Hoffmann and Daniela Karall and David M. Koeller and Michael Bernhardt Krawinkel and J{\"u}rgen G{\"u}nther Okun and Thomas Opladen and Roland Posset and Katja Sahm and Johannes Zschocke and Stefan K{\"o}lker},
  journal={Journal of Inherited Metabolic Disease},
  year={2016},
  volume={40},
  pages={75-101}
}
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass… 
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Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.
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References

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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.
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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.
Promising outcomes in glutaric aciduria type I patients detected by newborn screening
TLDR
Patients with GA-I diagnosed by newborn screening have promising outcomes, though the risks of disease progression prior to 1 year of age remain significant.
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TLDR
Recent strategies, pitfalls and shortcomings of mass screening for glutaric aciduria type I are summarized, focusing on the relevant risk of missing patients with a mild biochemical phenotype (i.e. low excretors).
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TLDR
The case of 16-year-old macrocephalic female with late-onset GA-I and unusual paucisymptomatic presentation with fainting after exercise and widespread white matter signal changes at MRI is reported.
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TLDR
The data support previous findings that early diagnosis reduces neurological complications, but show that even with early diagnosis and careful management severe complications may ensue in some.
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TLDR
A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic, which indicates this disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations.
False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency
TLDR
Renal damage in neonates might lead to disturbances in renal transporter systems of glutaric acid and its metabolites and a decreased excretion of C5DC, thus resulting in an increase of plasma C5 DC, and newborns presenting with a positive screening indicating GA I may be considered not only to suffer from GA I but from renal insufficiency as well.
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