ISSN:
1432-1076
Keywords:
Propionic acidaemia
;
Propionyl-CoA carboxylase deficiency
;
Skin lesions
;
Inborn errors of metabolism
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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 and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assay were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% “dermatitis acidemica” was found.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02138781
Permalink
