Pyruvate is generated by the body during carbohydrate metabolism. There are several disorders associated with pyruvate metabolism deficiency, most of which are genetic. In pyruvate dehydrogenase complex deficiency, or PDCD, the enzymes that usually process pyruvate to obtain energy are not functional and pyruvate can build up. In pyruvate carboxylase deficiency, or PCD, the enzyme responsible for making glucose from pyruvate and alanine is defective. Each of these pyruvate metabolism dysfunctions has a distinct set of side effects. Knowing the symptoms of pyruvate metabolism dysfunction will help you properly identify problems with your infant that should be brought to the attention of a physician.
Lactic Acid Build Up
According to the Merck Manual, lactic acid build up is a symptom of both PDCD and PCD. When pyruvate builds up, the body must find a way to dispose of it. In the absence of the pathways that are defective in both of these disorders, pyruvate is converted into lactic acid. To understand this, consider the effects of running quickly without breathing properly--the body begins to cramp. Pyruvate breakdown is a process that requires oxygen. When you run quickly without breathing, your body begins to break down carbohydrates for energy--but cannot finish breaking down the pyruvate since there is no oxygen. Lactic acid is then generated which causes the cramping sensation you feel. Patients with pyruvate metabolism dysfunctions cannot break down pyruvate even under normal oxygen conditions, and therefore levels of lactic acid are chronically elevated.
CNS Malformation
Patients with PDCD have malformed central nervous systems. According to Pediatric Neuro, brain imaging of neonates with PDCD shows evidence of prenatal brain damage. Possible changes include cystic lesions of the cerebral cortex, brain stem and basal ganglia. The physical appearance of such babies resembles that of babies with fetal alcohol syndrome.
Seizures
Neonates suffering from severe PCD can suffer seizures in which their muscles become spastic. According to the Genetics Home Reference such infants have severe lactic acid build up as well as increased ammonia levels in their blood. They can also experience episodes of weak muscle tone, abnormal movements and comas.
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