An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.

Blass, J P

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis. [electronic resource] - The Journal of clinical investigation Jul 1972 - 1845-51 p. digital

Publication Type: Journal Article

0021-9738

10.1172/JCI106986 doi


Acidosis--congenital
Carbohydrate Metabolism, Inborn Errors--metabolism
Carbon Isotopes
Carboxy-Lyases--metabolism
Child, Preschool
Citrates--metabolism
Citric Acid Cycle
Female
Fibroblasts--enzymology
Glutamates--metabolism
Humans
Hydro-Lyases--metabolism
In Vitro Techniques
Intellectual Disability
Isocitrate Dehydrogenase--metabolism
Isocitrates--metabolism
Lactates--blood
Movement Disorders
Oxidoreductases--metabolism
Palmitic Acids--metabolism
Pedigree
Pyruvates--blood
Skin--cytology