Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one or more enzymes in the pyruvate dehydrogenase complex. The age of onset and severity of disease depends on the activity level of the PDC enzymes. Individuals with PDCD beginning prenatally or in infancy usually die in early childhood. Those who develop PDCD later in childhood may have mental retardation and other neurological symptoms and usually survive into adulthood. Approximately 25% of individuals with PDCD have an abnormality in the PHE1A gene located on the X chromosome. Approximately 75% of affected individuals have a form of the disorder that follows autosomal recessive inheritance.

The Cause of High Ammonia Levels

Ammonia is a byproduct of a step in protein metabolism that ordinarily takes place in the liver. When that metabolic function is working normally, the ammonia does not accumulate to any significant extent. The ammonia can however rise to a dangerous or worrisome level most commonly in people with severe liver disease or less commonly in some people with rare metabolic disorders. The ammonia becomes a marker of the severity of the impairment of the liver in a setting like your husband`s. In people with liver disease, we use a drug called lactulose during an acute situation to reduce the amount of protein breakdown in the intestine by bacteria and indirectly reduces the ammonia level. Over the longer term, the key is better liver function, whether by some healing and recovery of the liver or in extreme situations by liver transplantation.