Jiménez PM, Ibarra GI, Fernández LC, Ruiz GM, Vela AM

Language: Spanish
References: 20
Page: 268-274
PDF size: 150.46 Kb.

ABSTRACT

Hyperammonemia (HA) is a metabolic emergency, and when not diagnosed and treated in a timely manner leads to severe neurological damage and/ or death. HA may have multiple origins, but the EIM are one of the causes that should always be suspected. The objective of this work is to make a clinical description of the causes of HA in a sample of patients from the National Institute of Pediatrics (INP), to know the proportion of patients with HA in which could confirm the presence of an inborn error of metabolism (IEM). We found 72 patients with HA in the past 10 years, of whom 11 were patients already known to have an IEM and 61 with unknown cause; Of the latter, 46% of patients underwent metabolic studies (amino acids quantification, organic acids analysis and orotic acid quantification) and in 14 cases (30%) an IEM was diagnosed. The clinical symptoms most frequently observed were neurological (seizures, drowsiness, lethargy, irritability, developmental delay, and hypotonia stupor, etc.), followed by digestive disturbances such as vomiting and refusal to eat. Urea cycle disorders, aminoacidopathies and organic acidemias were diagnosed, so the management and treatment of these should be known by the pediatricians, especially those dedicated to emergencies.

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