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Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric

E M Charlotte Märtner1, Esther M Maier2, Katharina Mengler1

  • 1Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany.

Journal of Inherited Metabolic Disease
|December 4, 2020
PubMed

Insights

Early diagnosis of Glutaric aciduria type 1 (GA1) via newborn screening and adherence to emergency treatment (ET) ensure normal growth. Non-adherence and dystonia negatively impact weight and length in GA1 patients.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency, primarily impacting the brain.
  • Newborn screening (NBS) is crucial for early identification and improved neurological outcomes in GA1 patients.

Purpose of the Study:

  • To investigate the long-term anthropometric and neurological effects of recommended therapy, including diet and emergency treatment (ET), in GA1 patients identified by NBS.
  • To assess the impact of adherence to treatment protocols on growth parameters (weight, length, BMI, head circumference) and neurological development.

Main Methods:

  • A national prospective, observational, multi-centre study involving 79 GA1 patients identified via NBS.
  • Analysis of interventional and non-interventional parameters, including adherence to maintenance and emergency treatment, and their correlation with anthropometric and neurological outcomes.
  • Longitudinal analysis to track developmental trajectories over time.

Main Results:

  • Adherence to recommended maintenance and emergency treatment positively influenced neurological outcomes and supported normal anthropometric development into adulthood.
  • Non-adherence to ET was associated with a higher risk of dystonia and negatively impacted body weight (mean SDS -1.07) and length (mean SDS -1.34).
  • Severe dystonia negatively affected weight and length development over time (P < .001). Macrocephaly was more prevalent in females and high excreter phenotypes.

Conclusions:

  • Recommended long-term treatment for GA1 is effective in achieving normal anthropometric development up to adolescence, with variations based on gender and excreter type.
  • Delayed emergency treatment and severe movement disorders like dystonia are linked to poor anthropometric outcomes in GA1.
  • Early identification through NBS and consistent adherence to treatment protocols are vital for optimizing both neurological and growth outcomes in GA1.

Keywords:
anthropometricsbiochemical subtypedevelopmentdietdystoniaglutaric acidemia type 1glutaric aciduria type 1newborn screening

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