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Carbohydrate Disorder

This document describes a case of hereditary fructose intolerance in a 23-year-old male and his 11-year-old sister. The male had a history of abdominal issues and swelling, as well as cataracts and cirrhosis of the liver. Laboratory tests found elevated glycosylated hemoglobin and fructosuria. Tests confirmed the presence of fructose in urine and low enzyme levels associated with fructose metabolism. This, along with symptoms on a fructose tolerance test, indicated a diagnosis of hereditary fructose intolerance. The condition requires a lifelong fructose-free diet to avoid liver damage, hypoglycemia and other issues. The sister was also found to

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47 views4 pages

Carbohydrate Disorder

This document describes a case of hereditary fructose intolerance in a 23-year-old male and his 11-year-old sister. The male had a history of abdominal issues and swelling, as well as cataracts and cirrhosis of the liver. Laboratory tests found elevated glycosylated hemoglobin and fructosuria. Tests confirmed the presence of fructose in urine and low enzyme levels associated with fructose metabolism. This, along with symptoms on a fructose tolerance test, indicated a diagnosis of hereditary fructose intolerance. The condition requires a lifelong fructose-free diet to avoid liver damage, hypoglycemia and other issues. The sister was also found to

Uploaded by

Maria Clara
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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CARBOHYDRATE DISORDER

BACKGROUND

 A 23-year old male


o Upper abdominal discomfort for past 6 years
o Swelling of both the lower limbs and abdomen distention for past 2 years

HISTORY

 H/O: hospitalization for vomiting and diarrhea, almost every 2-3 months up to the age of
9 years and less frequently thereafter
 H/O: B/L – cataract at the age of 8 years
 At the age of 14 years, he was admitted at a referral hospital with c/o – Abdominal
distention and : cirrhosis of liver with portal hypertension. Liver biopsy was done.
 Past surgical H/O: cataract surgery

 Family history
o All the siblings were apparently normal except 8th sibling – a girl, 11 years old
had a cataract on right eye-underwent surgery at 10 years of age, she does not
have any other clinical history.

LABORATORY FINDINGS

 Hemoglobin – 8.6 g/dL


 Total serum protein was 4.1 g/dL, serum albumin was 1.8 g/dL
 His total serum bilirubin was 4.7 mg/dL (direct 2.9 mg/dL)
 Serum AST was 55 IU/L, serum ALT was 30 IU/L
 Serum alkaline phosphatase was 200 IU/L
 Serum gamma GT was 65 IU/L
 His prothrombin time was prolonged with test value of 28 sec and control value of 13
sec.
 His glycosylated haemoglobin (Hb A1) was 12.3%
 Normal total and differential leukocyte count and platelets -1 lakh/cu mm
 His serum creatinine was 1.2 mg/dL
 serum electrolytes were normal
 Urine analysis showed traces of albumin
 bile salts and bile pigments and urine sugar was absent

In the case of the girl (sibling) – all investigation was normal except her glycosylated
haemoglobin (Hb A1) which was 11.4%
 Presence of early onset cataracts, cirrhosis of liver and elevated glycosylated
haemoglobin in the absence of glycosuria prompted evaluation for errors of carbohydrate
metabolism other than diabetes mellitus

Urine specimen

 Tests for glucose


o Male – negative: glucose oxidase methods (Dip Stix)
o Female – negative: glucose oxidase methods (Dip Stix)
 Resorcinol reaction – ketose positive (screening test for fructosuria)
 Partition chromatography in urine confirmed the presence of fructose.
 Fructose excretion
o male 342 mol/day
o female 355 mol/day

 Oral fructose loading test


Test Patient Fasting 1st hour 2nd hour 3rd hour
Sugar Male 87 90 102 108
(mg/dL) Female 56 68 120 65
Triglycerides Male 76 54 81 68
(mg/dL) Female 91 53 108 77
Uric acid Male 2.6 3.0 3.5 3.1
(mg/dL) Female 2.4 1.9 2.1 1.8
Phosphorus Male 1.3 1.4 2.0 1.5
(mg/dL) Female 1.1 1.1 1.7 1.2
Urine sugar Male – – – –
(Strip) Female – – – –
Urine sugar Male – Green Green Green
(Benedict’s) Female – – – –

 Quantitative assays of the two enzymes – fructose 1,6 bisphosphotase and fructose
aldolase
Enzyme Patient Results Normal Range
Fructose 1,6 bis- Male 4.2 3.8 – 8.0 at 37 C
phosphotase Female 5.6
Fructoaldolase Male 4.7 8±4 U/L at 37 C
Female 1.9 4.7±3.2 U/L at 37 C

DISCUSSION
DD: Cataracts and hepatic involvement - other inborn errors of metabolism:
a.) galactosemia
b.) Mannosidosis
c.) Wilson’s disease

1. The patient’s elevated glycosylated hemoglobin, absence of glycosuria, and fructosuria in


urine chromatography show errors in fructose metabolism.
2. Oral Fructose Tolerance Test showed fructose induced hypoglycemia, marked elevation in
serum fructose levels, hypophosphatemia, and acidosis, which are all suggestive of fructose
intolerance.

Inborn Error of Fructose Metabolism

 Essential Fructosuria
 Hereditary Fructose intolerance
Problem 1: Fructose cannot enter glycolysis, gluconeogenesis
Problem 2: Phosphate depleted and ATP production slow, liver cells are low on energy – liver
damage/ failure
Problem 3: Gluconeogenic slow down, glucose release slow down – hypoglycaemia

Cataract in fructosemia: accumulation of sorbitol in the lens – (end-product inhibition effect)

ESSENTIAL FRUCTOSURIA

 Asymptomatic Condition
 Fructose kinase
 Elevation of fructosemia
 Fructosuria

HEREDITARY FRUCTOSE INTROLERANCE

 Symptomatic Condition
 Aldolase B
 Sign and symptoms:
o Nausea, vomiting, and diarrhea
o Abdominal pain
o Fasting hypoglycemia
o Liver Damage – jaundice
o Hepatomegaly, cirrhosis of liver
o Kidney failure
TREATMENT: Fructose Free Diet is the only Treatment for both these conditions.

SOURCE: https://www.slideshare.net/kotteswaran85/hif-case?from_action=save

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