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  • Title: [Glycerol kinase deficiency in adult patient: hypertriglyceridemia resistance to diet and pharmacological treatment].
    Author: Arrieta F, Ojeda S, Rueda Á, Stanescu S, Belanger-Quintana A, Martínez-Pardo M.
    Journal: Nutr Hosp; 2018 Aug 02; 35(4):993-995. PubMed ID: 30070892.
    Abstract:
    CASE REPORT: we present an 85-year-old patient with polydipsia, polyuria and severe hypertriglyceridemia of 27 years of evolution, without pancreatitis, resistant to dietary and pharmacological treatments. He was diagnosed of hyperglycerolemia due to glycerol kinase deficiency (GKD) based on: transparent non-lipemic serum, with glycerol increase in plasma and urine, without glycerol 3 phosphate increase, and a deletion, not previously described, in the glycerol kinase gene. DISCUSSION: a correct dietary treatment with frequent meals and rich in complex carbohydrates, without medication, improved the symptomatology. Caso clínico: presentamos un paciente varón de 85 años con polidipsia, poliuria e hipertrigliceridemia severa de 27 años de evolución, sin pancreatitis, persistente y resistente a tratamientos dietético y farmacológico. Se diagnosticó de hiperglicerolemia por déficit de glicerol kinasa (GKD) en base a: suero transparente no lipémico, aumento de glicerol en plasma y orina, sin aumento de glicerol 3 fosfato y deleción, no descrita previamente, en el gen de la glicerol kinasa.Discusión: un tratamiento dietético correcto con comidas frecuentes y rico en carbohidratos complejos, sin medicación, mejoró la sintomatología.
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