FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY (FBP1D)

Question 1

What is  FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY (FBP1D)?

Accepted Answer

rare
autosomal recessive
diagnosis: fructose tolerance test (adequate monitoring, exclude hereditary fructose intolerance before! liver biopsy (leukocytes)
GC/MS after solvent extraction (...), which is a widely used diagnostic standard, could not detect increased levels of glycerol or glycerol-3-phosphate in the patients urine, which was sampled during the episode. It is important to select the appropriate method of urinalysis for organic acids by GC/MS [Kato S et al. 2015]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fruktose-1,6-Diphosphatasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 229700

Question 4

Which enzymes are involved?

Accepted Answer

Fructose-1,6-bisphosphatase 1

Disease	FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY (FBP1D)
Synonym	FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY; FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY
OMIM	229700 OMIM = Online Mendelian Inheritance of Men
Orphanet	348
Protein (UniProt)	Fructose-1,6-bisphosphatase 1
ExPASy	3.1.3.11
Gene locus	9q22.32
ICD	E74.1
Summary	rare autosomal recessive diagnosis: fructose tolerance test (adequate monitoring, exclude hereditary fructose intolerance before! liver biopsy (leukocytes) GC/MS after solvent extraction (...), which is a widely used diagnostic standard, could not detect increased levels of glycerol or glycerol-3-phosphate in the patients urine, which was sampled during the episode. It is important to select the appropriate method of urinalysis for organic acids by GC/MS [Kato S et al. 2015]
Laboratory findings	Glycerol-3-phosphate inc (urine) 3-Hydroxybutyric acid inc (urine) Glycerol normal/inc (urine) Alanine inc (plasma) D-Glucose dec (serum) Fructose 1,6 biphosphatase dec (liver) Ketone bodies (urine) inc (urine) Ketone bodies (urine) normal/inc (urine) Ketone bodies (urine) normal/inc (blood) L-Lactic acid inc (serum) pH normal/dec (blood) Uric acid normal/inc (urine) Uric acid normal/inc (plasma)
Symptoms	hepatomegaly (large liver) hypoglycemia tachypnea, hyperpnea, dyspnea, hyperventilation ketosis, ketoacidosis apnea cardiac arrest cataract coma dyspnea early death EEG abnormalities [-] hematemesis hypotonia irritability lactic acidosis lethargy, drowsiness, apathy metabolic acidosis onset, infancy onset, neonatal seizures vomiting