Alpha-ketoglutarate dehydrogenase deficiency: Difference between revisions
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* [[Hypotonia]] | * [[Hypotonia]] | ||
* [[Metabolic acidosis]] | * [[Metabolic acidosis]] | ||
* [[ | * [[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 13:48, 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 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 symptoms including:
Neurologic deterioration can result in death in the early days of life.[1]