Rheumatoid arthritis is a serious autoimmune disease that attacks the joints and other body parts. But RA can be tough to diagnose. Symptoms can mimic other illnesses, or they may flare, then fade, only to flare again somewhere else. Lab tests arenât perfectyou can test negative for RA factors and still have it.heumatoid arthritis is a serious autoimmune disease that attacks the joints and other body parts. But RA can be tough to diagnose. Symptoms can mimic other illnesses, or they may flare, then fade, only to flare again somewhere else. Lab tests arenât perfectyou can test negative for RA factors and still have it.
People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking.
Pathophysiology. Pyruvate dehydrogenase complex (PDC) converts pyruvate to acetyl-coenzyme A (CoA), which is one of the two essential substrates needed to produce citrate (see the image below). This diagram shows a simplified version of the citric acid cycle and shows the enzyme deficit.ll children are born with some residual enzyme activity, because a complete deficiency of pyruvate dehydrogenase complex is incompatible with life. Infants with 15% or less pyruvate dehydrogenase complex activity normally do not survive the newborn period.