Author:

Keywords:

peroxisomal disorder, bile acids, inborn error, zellweger syndrome, peroxisome, peroxisomal beta-oxidation, rhizomelic chondrodysplasia punctata, renal zellweger syndrome, chain fatty-acids, acyl-coa oxidase, trihydroxycoprostanoyl-coa, rat-liver, neonatal adrenoleukodystrophy, refsums disease, phytanic acid, Science & Technology, Life Sciences & Biomedicine, Medical Laboratory Technology, PEROXISOMAL DISORDER, BILE ACIDS, INBORN ERROR, ZELLWEGER SYNDROME, PEROXISOME, PEROXISOMAL BETA-OXIDATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, RENAL ZELLWEGER SYNDROME, CHAIN FATTY-ACIDS, ACYL-COA OXIDASE, TRIHYDROXYCOPROSTANOYL-COA, RAT-LIVER, NEONATAL ADRENOLEUKODYSTROPHY, REFSUMS DISEASE, PHYTANIC ACID, Abnormalities, Multiple, Acyl Coenzyme A, Bile Acids and Salts, Cells, Cultured, Cholestanols, Coenzyme A Ligases, Dicarboxylic Acids, Diseases in Twins, Fatty Acids, Nonesterified, Female, Fibroblasts, Humans, Infant, Liver, Microbodies, Palmitoyl Coenzyme A, Phenotype, Repressor Proteins, Saccharomyces cerevisiae Proteins, Skin, Twins, Dizygotic, Zellweger Syndrome, 1103 Clinical Sciences, General Clinical Medicine, 3101 Biochemistry and cell biology, 3202 Clinical sciences

Abstract:

Two patients with a suspected peroxisomal disorder on the basis of neurological, craniofacial, hepatological and other abnormalities were studied. The phenotype of both girls was remarkably similar from birth until age 1.5 yr.