Phenylketonuria Biochemistry


PE Labs

Imaging Gross Pathology Micro Pathology

Treatment Discussion

A 7-year-old female presents with anxiety, dizziness, sweating, and nausea following brief episodes of exercise.

These symptoms are relieved by eating and do not occur if the patient is frequently fed small meals.

Physical exam unremarkable.

Hypoglycemia following brief fasting; alanine fails to increase blood sugar; fructose or glycerol administration restores blood glucose to normal.

Liver biopsy for enzyme assays reveals deficiency of phosphoenolpyruvate carboxykinase, an enzyme of gluconeogenesis; no excess glycogen storage revealed.

Frequent small meals to prevent episodes of hypoglycemia.

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency prevents pyruvate from being converted to phosphoenolpyruvate. This deficiency interferes with gluconeogenesis from three-carbon precursors (e.g., alanine) that enter the gluconeogenetic pathway at or below the pyruvate level.

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