Fructose-1, 6-Bis-Phosphatase- Deficiency and Health Impact

Running Head: FRUCTOSE-1, 6-BIS-PHOSPHATASE- DEFICIENCY AND HEALTH
IMPACT
Fructose-1, 6-bisPhosphatase- Deficiency and health impact
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FRUCTOSE-1, 6-BIS-PHOSPHATASE- DEFICIENCY AND HEALTH IMPACT1
Introduction:
Fructose-1, 6-bisphosphatase is an enzyme that has EC number 3.1.3.11. This enzyme
converts fructose-1, 6-bisphosphate to fructose-6-phosphate in the gluconeogenesis as well as
the Calvin cycle [1]. Both of this metabolic pathways are anabolic in nature that aids in the
building of molecules from smaller units. This is a type of hydrolases enzyme. It specifically
acts as a phosphoric monoester hydrolases that acts on the ester bonds [2] [1].
Discussion:
Structure of the enzyme: The enzyme has a structure that is similar to that of the inositol-
5-phosphate. It consists of a structurally conserved family that is exploited in diverse
metabolic pathways. It contains a motif that binds to metal ions to promote the catalysis
reaction [3].
Fig1: The biochemical reaction catalysed by the enzyme [2]
Intracellular metabolic biochemical pathways that is affected: It acts as a rate limiting
enzyme in gluconeogenesis. It has an important role in the regulation of the glucose sensing
as well as the insulin secretion of the beta cells of the pancreas. It also modulates the glycerol
level in gluconeogenesis in the liver. This hydrolase enzyme is an important regulator of the
adiposity as well as the appetite [2]. Elevated levels of the enzyme in the liver after excessive

FRUCTOSE-1, 6-BIS-PHOSPHATASE- DEFICIENCY AND HEALTH IMPACT2
intake of the nutrient induces the secretion of elevated levels of satiety hormone that causes
reduction of the appetite stimulating neuropeptides hence promoting a feedback mechanism
for weight gain. It acts in the rate limiting step for conversion of the fructose-1, 6-
bisphosphate to fructose-6-phosphate, and acts in the presence of a divalent cation [4] [10].
The relevant transport, half-life, receptor activation and fate: The expression of the FBP1
gene produces Fructose-1, 6-bisphosphatase. It is a protein coding gene. The cytogenetic
location of the gene is 9q22.32 that is the long arm of the chromosome 9 at the position 22.32
[5]. The Fructose-1, 6-bisphosphatase enzyme is stimulated by adenosine triphosphate (ATP)
and inhibited by adenosine monophosphate (AMP).
Disorders related to malfunction of the above: Fructose-1, 6-bisphosphatase deficiency is a
metabolic disorder which is inherited and due to this deficiency the body is unable to make
glucose. Untreated metabolic disorder related to the deficiency of the enzyme leads to
hypoglycemia and metabolic acidosis if the individual is fasting, there can be episodes of
hyperventilation, apnoea also known as suspension of breathing and ketosis [5]. The
inheritance of the deficiency is in an autosomal recessive manner. Other symptoms of the
deficiency includes diarrhoea and hyperuricemia that is characterised by elevated levels of
uric acid in the blood [4] [11].