Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Alpha-ketoglutarate dehydrogenase deficiency
Introduction
Overview
Overview
Alpha-ketoglutarate dehydrogenase deficiency is a congenital error of an enzyme in the citric acid cycle. It is thought to be caused by low molar ratios of ketone bodies in the plasma of neonates with congenital lactic acidosis. The lactic acidosis and low ketone body concentration indicate a dysfunction in the citric acid cycle.
Symptoms
Symptoms
New borns present with symptoms including:
Neurologic deterioration can result in death in the early days of life.[1]
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]