Congenital diarrhea and enteropathies caused by DGAT1 deficiency and nutritional therapy
Diacylglycerol o-acyltransferase 1(DGAT1)is the key enzyme in fat metabolism.When DGAT1 gene who encodes this enzyme is mutated,it can affect the intracellular fat metabolism in organism with various clinical manifestations.DGAT1 gene deficiency is one of the causes of congenital diarrhea and enteropathies.The onset age in patients with DGAT1 deficiency is early.The main clinical manifestations of such patients include protein-losing enteropathy,malnutrition and other nutritional disorders.There is no specific drug for such disease so far.Early identification of DGAT1 deficiency and nutritional therapy in early infancy can treat this disease effectively and improve the prognosis.
InfantsCongenital diarrhea and enteropathiesDiacylglycerol o-acyltransferase 1Nutritional therapyGene mutation
NETL
NSTL
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