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Fructose-1,6-diphosphatase deficiency.

N J Hopwood, I Holzman, A L Drash

American Journal of Diseases of Children (1960)

|April 1, 1977

Summary

This summary is machine-generated.

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A child with unexplained metabolic issues had absent fructose-1,6-diphosphatase activity. Dietary management improved her tolerance to fasting and sugar challenges over time.

Area of Science:

Biochemistry
Pediatric Endocrinology
Metabolic Disorders

Background:

Metabolic acidosis, hepatomegaly, and fasting hypoglycemia are critical pediatric health concerns.
Glucagon unresponsiveness in hypoglycemia suggests underlying enzymatic defects in glucose regulation.
Fructose and glycerol challenges are diagnostic tools for specific metabolic pathway dysfunctions.

Observation:

A young girl presented with recurrent metabolic acidosis, hepatomegaly, and glucagon-unresponsive hypoglycemia.
She experienced severe blood glucose drops after oral fructose and glycerol challenges.
Enzyme analysis revealed absent hepatic fructose-1,6-diphosphatase activity.

Findings:

The patient's symptoms were directly linked to a deficiency in fructose-1,6-diphosphatase, a key gluconeogenic enzyme.

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Folic acid supplementation did not alleviate her metabolic intolerance.

Dietary management led to significant clinical improvement over two years.

Implications:

This case highlights the critical role of fructose-1,6-diphosphatase in maintaining glucose homeostasis.
It underscores the importance of targeted dietary interventions for inherited metabolic disorders.
Early diagnosis and management can lead to improved outcomes in pediatric metabolic diseases.