Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.

  • Höliner I
  • Simma B
  • Reiter A
 et al. 
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We report on a 4.5-year-old patient diagnosed with Glutaric aciduria type I (GAI), an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism. Enzymatic assay in cultivated skin fibroblasts revealed complete absence of glutaryl-CoA dehydrogenase activity. All 11 Exons of the GCDH-Gen were sequenced and homozygosity for a yet undescribed mutation was identified. The patient was treated following the recently published guidelines for GA-I. Following this treatment regimen, the child developed normally without any manifest clinical crises. Our patient provides evidence that early commencement and strict adherence to treatment improves clinical outcome even in patients with complete absence of enzyme activity.

Author-supplied keywords

  • Amino Acid Metabolism, Inborn Errors
  • Amino Acid Metabolism, Inborn Errors: diagnosis
  • Amino Acid Metabolism, Inborn Errors: diet therapy
  • Amino Acid Metabolism, Inborn Errors: genetics
  • Brain
  • Brain: pathology
  • Carnitine
  • Carnitine: administration & dosage
  • Cephalometry
  • Child, Preschool
  • Chromosome Aberrations
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diet, Protein-Restricted
  • Exons
  • Exons: genetics
  • Genes, Recessive
  • Glutarates
  • Glutarates: urine
  • Glutaryl-CoA Dehydrogenase
  • Glutaryl-CoA Dehydrogenase: deficiency
  • Guideline Adherence
  • Humans
  • Infant
  • Infant, Newborn
  • Lysine
  • Lysine: administration & dosage
  • Magnetic Resonance Imaging
  • Male
  • Neonatal Screening
  • Prognosis
  • Tryptophan
  • Tryptophan: administration & dosage

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  • I Höliner

  • B Simma

  • a Reiter

  • J O Sass

  • J Zschocke

  • Martina Huemer

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