Meneces RAP, Fortini YV

Language: Spanish
References: 8
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ABSTRACT

Introduction: Glutaric aciduria type 1 is an autosomal recessive disorder, caused by the deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine and L-tryptophan.
Objective: To describe the presentation, forms of diagnosis and the adequate treatment of glutaric aciduria type 1.
Clinical case report: This a 3-year-old patient, who was admitted with convulsive status, which was reversed after the administration of benzodiazepines, phenytoin and phenobarbital. The laboratory results confirmed that he had hypoglycemia, for which he required intravenous correction with 25% dextrose. Blood cultures, urine and cerebrospinal fluid were indicated, which resulted negative. The patient was 7 days with intravenous antibiotic treatment. Since his brother has a diagnosis of glutaric aciduria type 1, our patient was consulted at Prof. Dr. Juan P. Garrahan hospital which is a national pediatric reference. It was requested determination of organic acids in urine by gas chromatography and mass spectrometry. He was diagnosed with type 1 glutaric aciduria. Treatment began with L-carnitine tablets 100 mg / kg / day, every 8 hours and protein restriction at 1.5 g/kg/day with a caloric intake of 80 Kcal/kg. The patient evolved favorably and was discharged from the hospital with control by an outpatient clinic.
Conclusions: This type of metabolic disease should be ruled out in all infants, since there are typical presentations and others which are due to autosomal recessive inheritance. It is important to evaluate the family history to guide the diagnosis. The collection of blood, urine and filter paper card samples should be coordinated when there is a suspicion of a metabolic disease. Diagnosis and early initiation of treatment is very important to prevent neurological sequelae and the patient´s death.

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