Recém-nascido com deficiência de glicerol quinase: um caso clínico

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified. CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41 mg/dL, urea 306 mg/dL, hypernatremia (182 mEq/L), hyperkalemia (6.8 mEq/L), hyperchloremia (151 mEq/L), glutamic-oxalacetic transaminase 879 U/L, glutamic-pyruvic transaminase 243 U/L, triglycerides 725 mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T> C (p.S63P) as hemizygote status in the GK gene. CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.