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Congenital lactic acidosis

A form of lactic acidemia with congenital onset. [HPO:probinson]
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Long-term safety of dichloroacetate in congenital lactic acidosis.
Highly Cited
2007
Highly Cited
2007
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
BACKGROUND Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase… 
Review
2006
Review
2006
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.
Review
2002
Review
2002
Clinical approach to inherited metabolic disorders in neonates: an overview.
There are almost one hundred inborn errors of metabolism which can start in the neonatal period, but less than 20 are amenable to… 
Highly Cited
1997
Highly Cited
1997
Treatment of congenital lactic acidosis with dichloroacetate
The term congenital lactic acidosis (CLA) refers to a group of inborn errors of mitochondrial metabolism variably characterised… 
Highly Cited
1984
Highly Cited
1984
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.
We report the case of an infant with hypoglycemia, progressive lactic acidosis, an increased serum lactate/pyruvate ratio, and… 
Highly Cited
1976
Highly Cited
1976
NEONATAL CONGENITAL LACTIC ACIDOSIS WITH PYRUVATE CARBOXYLASE DEFICIENCY IN TWO SIBLINGS
Abstract. The authors report 2 familial cases of neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in the… 
Highly Cited
1975
Highly Cited
1975
Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.
A complete deficiency in the pyruvate dehydrogenase system activity contributed to the death of a 6-month-old infant with… 
Highly Cited
1975
Highly Cited
1975
Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy
Extract: A male child presented on the first day of life with metabolic acidosis with elevated blood lactate (15 mM), pyruvate (0… 
Highly Cited
1972
Highly Cited
1972
An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.
Cultured skin fibroblasts from a 3 yr old girl with severe, diffuse neurologic disease and persistant lactic acidosis, oxidized… 
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