PROPIONIC ACIDEMIA - CLINICAL, BIOCHEMICAL AND THERAPEUTIC ASPECTS - EXPERIENCE IN 30 PATIENTS

Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3- hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia an d hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensive ly as are enzymatic findings. Residual activity of propionyl-CoA carbo xylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assays were less reliable for confirm ation of propionic acidaemia and of no prognostic value. Clinical pres entation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, d ehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apa thy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) var ious skin abnormalities have been detected in about 50% of all patient s. In 27% ''dermatitis acidemica'' was found.