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. 2021 Jan;88(1):80-81.
doi: 10.1007/s12098-020-03385-x. Epub 2020 Jun 26.

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

Marketa Tesarova  1 , Viktor Stranecky  1 , Petra Konecna  2 , Dagmar Prochazkova  2 , Helena Hulkova  1   3 , Jiri Zeman  1 , Tomas Honzik  1 , Martin Magner  4   5
Affiliations

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

Marketa Tesarova et al. Indian J Pediatr. 2021 Jan.
No abstract available

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References

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    1. Joshi M, Eagan J, Desai NK, et al. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014;22:1229–32. - DOI
    1. Dionisi-Vici C, Shteyer E, Niceta M, et al. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency. J Inherit Metab Dis. 2016;39:689–95. - DOI
    1. Li N, Chang G, Xu Y, et al. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. Am J Med Genet A. 2017;173:3189–94. - DOI
    1. Li JQ, Xie XB, Feng JY, et al. A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report. BMC Gastroenterol. 2018;18:96. - DOI

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