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Summary
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (HTGTI, GPD1)
GLYCEROL-3-PHOSPHATE DEHYDROGENASE DEFICIENCY
614480
OMIM = Online Medalian Inheritance of Men
300293
12q13.12
rare (18 cases)
autosomal recessive
mutation in the GPD1 gene
symptoms
cirrhosis or fibrosis of liver
growth retardation, poor growth
hepatomegaly (large liver)
liver, fatty
obesity
onset, infancy
onset, neonatal
short stature
splenomegaly (large spleen)
laboratory finding
Triglycerides258.006244.00 mg/dlserum
Dicarboxylic acids mmol/mol creatinineurine
Cholesterol2.9070.00 mmol/lserum
Literature
Leroy JG,Cathey S, Friez MJMucolipidosis IIGeneReviews-« Internet002012
Palmer EE,et al.New insights into Brunner syndrome and potential for targeted therapyClin Genet891120-1272016
Velho RV,et al.Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutationsJ Hum Genet616555-5602016
Lin MH,Pitukcheewanont PMucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literatureJ Pediatr Endocrinol Metab251191-1952012
Raas-Rothschild A,Spiegel RMucolipidosis III GammaGeneReviews-« Internet002012
Piton A,et al.20 ans apr+¿s: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionEur J Hum Genet226776-7832014