GLYCEROL INTOLERANCE SYNDROM

Question 1

What is  GLYCEROL INTOLERANCE SYNDROM?

Accepted Answer

rare
GIS may be caused by partial deficiency of FDPase [Beatty ME et al. 2000]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glycerol-Stoffwechselstörung

Question 3

Which enzymes are involved?

Accepted Answer

partial deficiency or delayed maturation of hepatic fructose 1,6-diphosphatase ?

Disease	GLYCEROL INTOLERANCE SYNDROM
Synonym	GLYCEROL INTOLERANCE SYNDROM; GIS
Orphanet	79179
Gene locus	unknown
ICD
Summary	rare GIS may be caused by partial deficiency of FDPase [Beatty ME et al. 2000]
Laboratory findings	D-Glucose normal/dec (serum) Fructose 1,6 biphosphatase dec (liver) Ketone bodies (urine) inc (urine) Phosphate dec (serum) Uric acid inc (serum)
Symptoms	diarrhea hypoglycemia ketosis, ketoacidosis lethargy, drowsiness, apathy nausea onset, childhood onset, neonatal pallor prematurity, premature delivery seizures shortened gestation time sweating vomiting