Phenylketonuria Biochemistry

ID/CC

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.

Was this article helpful?

0 0
Natural Vertigo And Dizziness Relief

Natural Vertigo And Dizziness Relief

Are you sick of feeling like the whole world Is spinning out of control. Do You Feel Weak Helpless Nauseous? Are You Scared to Move More Than a Few Inches From The Safety of Your Bed! Then you really need to read this page. You see, I know exactly what you are going through right now, believe me, I understand because I have been there & experienced vertigo at it's worst!

Get My Free Ebook


Post a comment