Alpha-ketoglutarate dehydrogenase deficiency: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
==Overview== | ==Overview== | ||
Alpha-ketoglutarate dehydrogenase is | 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 plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the [[citric acid cycle]]. | ||
==Symptoms== | ==Symptoms== | ||
Revision as of 13:43, 26 July 2012
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 plasma of neonates with congenital lactic acidosis as an indication of dysfunction of 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.[1]