Biomaterial Database

Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate. 1993

P P Tóth, and H el-Shanti, and S Eivins, and W J Rhead, and J M Klein

Department of Obstetrics/Gynecology, University of Iowa, Iowa City 52242.

A comatose male newborn infant with congenital lactic acidosis caused by pyruvate decarboxylase deficiency was treated with dichloroacetate (DCA), which stimulated an 88% drop in serum lactate concentration and reversed his coma. The response to DCA was temporary and the lactic acidosis worsened until his death, but DCA may confer more lasting benefit in less severely affected infants.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D011767	Pyruvate Decarboxylase	Catalyzes the decarboxylation of an alpha keto acid to an aldehyde and carbon dioxide. Thiamine pyrophosphate is an essential cofactor. In lower organisms, which ferment glucose to ethanol and carbon dioxide, the enzyme irreversibly decarboxylates pyruvate to acetaldehyde. EC 4.1.1.1.	2-Oxo Acid Carboxy-Lyase,Pyruvic Decarboxylase,alpha-Carboxylase,alpha-Ketoacid Carboxylase,2 Oxo Acid Carboxy Lyase,Acid Carboxy-Lyase, 2-Oxo,Carboxy-Lyase, 2-Oxo Acid,Carboxylase, alpha-Ketoacid,Decarboxylase, Pyruvate,Decarboxylase, Pyruvic,alpha Carboxylase,alpha Ketoacid Carboxylase
D003999	Dichloroacetic Acid	A derivative of ACETIC ACID that contains two CHLORINE atoms attached to its methyl group.	Sodium Dichloroacetate,Bichloroacetic Acid,Potassium Dichloroacetate,Acid, Bichloroacetic,Acid, Dichloroacetic,Dichloroacetate, Potassium,Dichloroacetate, Sodium
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000140	Acidosis, Lactic	Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.	Lactic Acidosis
D015323	Pyruvate Metabolism, Inborn Errors	Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.