Abstract
Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. The treatment consists of a low lysine (Lys) diet, protein substitute lys-free, tryptophan-reduced (PS) and L-carnitine. Objectives: Describe the clinical and nutritional evolution of a cohort of GA-1 patients at a national referral center in Chile. Methodology: Retrospective study of 24 patients diagnosed with GA-1 between 1998-2020 and referred to the Institute of Nutrition and Food Technology (INTA) of University of Chile. Results: Age at diagnosis was 19±27 months; 10/24 presented AEC and neurological sequelae. The cases without AEC (14/24) 8 presented neurological compromise: psychomotor development delay, abnormal movements and pyramidal syndrome. Nutritional evaluation: 12/24 were malnourished by deficiency, <6 years old group (12/24): 11 cases were found to have Lys and PS, ≥6 years old (12/24): 9/12 did not receive PS. All had normal free carnitine levels. Conclusion: GA-1 has variable symptoms with neurological involvement AEC or insidious start. Is essential to maintain a long-term follow-up and consider its inclusion in neonatal screening programs.
Highlights
Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms
A differentiation was made between children aged < 6, in which energy intake, PS, Lys and L-carnitine were compared with international recommendations (8) and those children aged ≥ 6 according to protein and energy requirements determined by FAO/WHO/UN according to age [22,23]. and L-carnitine according to international protocol (8)
Regarding the clinical characteristics: 1/24 cases had a history of consanguinity, 10/24 cases presented with AEC (8±3 months old), of these, 8 were associated with infectious conditions, and the diagnosis was made at an average of 24±38 months of age (Table 1A). 14/24 who did not have AEC were diagnosed at an average of 14±17 months of age
Summary
Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. GA-I is a neurometabolic disease caused by the deficiency of the enzyme glutaryl-CoA-dehydrogenase (GCDH), which breaks down the amino acids lysine, hydroxylysine and tryptophan. This deficiency produces accumulation of: GA, 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid and glutarylcarnitine acid (C5DC). Neurological Evolution: The study group was divided into two groups according to diagnosis and clinical evolution. The z-score for each indicator was calculated to classify nutritional status according to WHO references in 2006 and 2007 by age and sex [20,21]. Nutritional Intake: Of the 24-hour dietary recall recorded, the intake of energy, protein from PS and intact, Lys, L-carnitine, iron, calcium and zinc were analyzed. Zinc and iron intakes were all compared according to the recommended daily intake (RDI) and it was considered adequate requirement between 90-110% [24,25]
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