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Use of guidelines improves the neurological outcome in glutaric aciduria type I
Jana Heringer1, S P Nikolas Boy, Regina Ensenauer
1Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.
Insights
Adhering to glutaric aciduria type I (GA-I) treatment guidelines, especially emergency protocols, significantly improves neurological outcomes. Newborn screening and metabolic center supervision are crucial for better results in GA-I patients.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Glutaric aciduria type I (GA-I) is a rare inherited metabolic disorder.
- Neurological complications, including movement disorders and encephalopathic crises, are common in untreated GA-I.
- Newborn screening (NBS) aims to identify affected infants early for timely intervention.
Purpose of the Study:
- To assess the impact of evidence-based treatment recommendations on neurological outcomes in GA-I patients.
- To identify factors influencing neurological outcomes in GA-I, including adherence to treatment and medical supervision.
Main Methods:
- Prospective follow-up of 52 GA-I patients identified via NBS in Germany (1999-2009).
- Neurological outcome assessment included acute encephalopathic crises and movement disorder (MD) severity.
- Outcomes were correlated with adherence to metabolic treatment (diet, carnitine) and emergency protocols, as well as supervision by metabolic centers.
Main Results:
- Patients treated fully according to recommendations had the best outcomes (5% MD).
- Deviations from basic metabolic treatment led to intermediate outcomes (44% MD).
- Disregard of emergency treatment recommendations resulted in poor outcomes (100% MD), significantly increasing risks for MD and crises. Metabolic center supervision improved outcomes.
Conclusions:
- Newborn screening for GA-I has improved neurological outcomes.
- Strict adherence to evidence-based treatment guidelines and specialized metabolic center supervision are critical for optimizing outcomes and minimizing the impact of GA-I.
Objective:
To evaluate the effect of treatment according to current evidence-based recommendations on the neurological outcome of patients with glutaric aciduria type I (GA-I).
Methods:
Fifty-two patients identified by newborn screening (NBS) in Germany from 1999 to 2009 were followed prospectively. Neurological outcome was assessed by the occurrence of an acute encephalopathic crisis and the severity of a movement disorder (MD) with predominant dystonia superimposing on axial hypotonia. Outcome was evaluated in relation to therapy and therapy-independent parameters.
Results:
Outcome was best in GA-I patients who were treated in full accordance with treatment recommendations (n=37; 5% MD). Deviations from recommended basic metabolic treatment (low-lysine diet, carnitine) resulted in an intermediate outcome (n=9; 44% MD), whereas disregard of emergency treatment recommendations was associated with a poor outcome (n=6; 100% MD). Treatment regimens deviating from recommendations significantly increased the risk for MD (odds ratio [OR], 35; 95% confidence interval [CI], 5.88-208.39) and acute encephalopathic crises (OR, 51.32; 95% CI, 2.65-993.49). Supervision by a metabolic center improved the outcome (18% vs 57% MD; OR, 6.17; 95% CI, 1.15-33.11), whereas migrational background and biochemical phenotype (high versus low excretor status) had no significant effect.
Interpretation:
Follow-up of neonatally diagnosed patients with GA-I in Germany clearly demonstrates that the inclusion of this rare disease in the NBS disease panel has significantly improved the neurological outcome of affected individuals. The establishment of and adherence to evidence-based treatment recommendations, and supervision by experienced metabolic centers helps to minimize the number of patients who do not benefit from NBS.
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