Alpha-ketoglutarate dehydrogenase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Alpha-ketoglutarate dehydrogenase defiency 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

New borns present with

• Hypotonia
• Metabolic acidosis
• Hyperlactatemia

Neurologic deterioration can result in death in the early days of life.