SGD: Carbohydrate Metabolism
Topic: Fructose Metabolism
Trigger 1
A three-year old male patient was transferred to hospital for further investigation of an enlarged liver (hepatomegaly). His parents
were first cousins and he was the first child. Probing his medical history gave the finding, that he was hospitalized for recurrent vomiting at two months of age. No obvious cause was found and the symptoms then disappeared
spontaneously. When he was three years old, his parents noticed his
failure to thrive (FTT) and hepatomegaly was noted on physical examination.
On admission to hospital, his weight and height were below
the third percentile. He had 4 cm hepatomegaly below the costal margin. A blood specimen was taken for blood biochemistry and liver biopsy was done.
Trigger 2
Blood
glucose on admission was normal as were arterial blood gases (ABG)
(pH 7.40, pCO2 34mmHg, pO2 64.9mmHg, HCO3 20mmol/L, base excess (BE)
-2mmol/L). Hemoglobin, white cell and platelet counts and
prothrombin time were within normal limits. While total bilirubin and
GGT were normal, SGOT and SGPT were slightly increased (SGOT 78IU/L,
SGPT 60IU/L). Total protein and albumin levels were normal. There was no
reducing agent (fructose) in his urine. Blood lactate and pyruvate
levels were normal but alanine and methionine levels were high. Urine
amino acid chromatography was normal.
Hereditary fructose intolerance was raised as a putative
diagnosis when a thorough evaluation of the patient's history revealed
aversion to products containing fructose.
Trigger 3
A percutaneous liver biopsy
was obtained and histology revealed diffuse macro- and
microvesicular steatosis with no evidence of cirrhosis.
Enzyme activities were noted in the biopsy tissue.
On the
basis of these results, the diagnosis of hereditary fructose intolerance
was confirmed and the child was commenced on a fructose-free diet.
During two years of follow-up, his liver enzymes returned to normal
levels and hepatomegaly disappeared.
Suggested reading
Discussion Points
- What are the salient features in Trigger 1?
- What are the positive lab findings in Trigger 2?
- What are the important findings in Trigger 3?
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