Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1992 Aug;121(2):255-8.
doi: 10.1016/s0022-3476(05)81199-0.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

J P Bonnefont  1 , D Chretien, P Rustin, B Robinson, A Vassault, J Aupetit, C Charpentier, D Rabier, J M Saudubray, A Munnich
Affiliations
Case Reports

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

J P Bonnefont et al. J Pediatr. 1992 Aug.

Abstract

We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.

PubMed Disclaimer

Publication types

LinkOut - more resources