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Dietary practices in glutaric aciduria type 1 over 16 years
H Gokmen-Ozel1, A MacDonald, A Daly
1Birmingham Children's Hospital, Birmingham, UK.
Summary
Early diagnosis and dietary management, including protein substitutes (PS) and emergency management (EM), are crucial for preventing encephalopathic crisis (EC) in glutaric aciduria type 1 (GA1). PS improves nutritional status in GA1 patients.
Area of Science:
- Metabolic Disorders
- Nutritional Science
- Pediatric Neurology
Background:
- Glutaric aciduria type 1 (GA1) requires prompt dietary treatment and emergency management (EM) to avert encephalopathic crisis (EC).
- This study investigated dietary practices in UK GA1 patients lacking newborn screening.
Purpose of the Study:
- To examine dietary treatment strategies for glutaric aciduria type 1 (GA1) in a UK center.
- To assess the impact of these strategies on patient outcomes, including neurological status and nutritional markers.
Main Methods:
- Evaluation of 20 GA1 patients (11 male, median age 10.2 years) with varying diagnosis ages and symptom severity.
- Assessment of dietary treatment, neurological outcomes, anthropometry, and biochemical/hematological markers.
Main Results:
- Dietary treatment varied by age at diagnosis and symptom severity; protein substitutes (PS) and protein restriction were key components.
- Patients receiving PS demonstrated improved nutritional markers (vitamin B12, albumin, hemoglobin, essential amino acids).
- Clinical deterioration occurred in two patients without EC, while four patients with EC died.
Conclusions:
- Early diagnosis of GA1 before EC is critical for effective management.
- Protein substitutes (PS) and protein restriction, coupled with meticulous emergency management (EM), prevent EC and improve nutritional status in GA1 patients.
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