Alpha-ketoglutarate dehydrogenase deficiency: Difference between revisions
Jump to navigation
Jump to search
(Created page with "__NOTOC__ {{CMG}} {{AE}} {{RT}} ==Overview== Alpha-ketoglutarate dehydrogenase is an inborn error of the tricarboxylic acid cycle. It is thought to be caused by low molar...") |
No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{CMG}} {{AE}} {{RT}} | {{CMG}} {{AE}} {{RT}} | ||
==Overview== | ==Overview== | ||
Alpha-ketoglutarate dehydrogenase is an inborn error of the tricarboxylic 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 tricarboxylic acid cycle. | Alpha-ketoglutarate dehydrogenase is an inborn error of the tricarboxylic 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 tricarboxylic acid cycle. | ||
==Symptoms== | ==Symptoms== | ||
New borns present with | New borns present with | ||
* Hypotonia | * Hypotonia | ||
* Metabolic acidosis | * Metabolic acidosis | ||
* Hyperlactatemia | * Hyperlactatemia | ||
Neurologic deterioration can result in death in the early days of life.<ref name="pmid1640293">{{cite journal |author=Bonnefont JP, Chretien D, Rustin P, ''et al.'' |title=Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis |journal=J. Pediatr. |volume=121 |issue=2 |pages=255–8 |year=1992 |month=August |pmid=1640293 |doi= |url=}}</ref> | Neurologic deterioration can result in death in the early days of life.<ref name="pmid1640293">{{cite journal |author=Bonnefont JP, Chretien D, Rustin P, ''et al.'' |title=Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis |journal=J. Pediatr. |volume=121 |issue=2 |pages=255–8 |year=1992 |month=August |pmid=1640293 |doi= |url=}}</ref> | ||
Revision as of 04:44, 24 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 is an inborn error of the tricarboxylic 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 tricarboxylic acid cycle.
Symptoms
New borns present with
- Hypotonia
- Metabolic acidosis
- Hyperlactatemia
Neurologic deterioration can result in death in the early days of life.[1]