HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (HTGTI, GPD1)

Question 1

What is  HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (HTGTI, GPD1)?

Accepted Answer

rare (18 cases)

autosomal recessive

mutation in the GPD1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614480

Question 3

Which enzymes are involved?

Accepted Answer

Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic

Disease	HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (HTGTI, GPD1)
Synonym	GLYCEROL-3-PHOSPHATE DEHYDROGENASE DEFICIENCY
OMIM	614480 OMIM = Online Mendelian Inheritance of Men
Orphanet	300293
Protein (UniProt)	Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic
ExPASy	1.1.1.8
Gene locus	12q13.12
ICD
Summary	rare (18 cases) autosomal recessive mutation in the GPD1 gene
Laboratory findings	Cholesterol normal/inc (serum) Dicarboxylic acids normal/inc (urine) Triglycerides inc (serum)
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)