ABSTRACT
Considering the clinical heterogeneity of primary hyperoxaluria type I (PH1) and the fact that in many instances this diagnosis was made without enzymatic and immunohistochemical investigation, other disturbances of oxalate metabolism than those presently known can be expected in PH1. Using a gaschromatographic/mass spectrometric method that allows quantification of these acids, hyperoxaluria and hyperglycoluria was found repeatedly in two unrelated patients. The hyperoxaluria was unresponsive to pyridoxine. There was no nephrocalcinosis or urolithiasis. In the liver biopsy normal AGT activity and normal localization of this enzyme in the peroxisome was found. In one patient abnormal Km and maximal activity and mozaicism of AGT were excluded. Hyperoxaluria and hyperglycoluria were also found in other family members, suggesting autosomal dominant transmission. Although the underlying defect leading to hyperoxaluria and hyperglycoluria could not be identified in these patients, it is probable that they represent a separate type of primary hyperoxaluria.
Subject(s)
Alanine Transaminase/metabolism , Glycosuria, Renal/etiology , Hyperoxaluria/etiology , Transaminases , Alanine Transaminase/genetics , Female , Gas Chromatography-Mass Spectrometry , Glycolates/urine , Glycosuria, Renal/genetics , Humans , Hyperoxaluria/genetics , Immunohistochemistry , Infant , Kinetics , Liver/pathology , Liver/ultrastructure , Male , Microbodies/enzymologyABSTRACT
Random urine samples from 614 neonates were screened for metabolites of purine and pyrimidine metabolism using an adapted column chromatographic method. A restricted number of metabolites and a number of unidentified peaks appeared on the chromatograms. No inborn errors of this metabolism were found. The chromatograms were identical in term and in premature or dysmature neonates, except for the presence of more unidentified peaks in the latter group. The pattern was not influenced by the type of feeding or i.v. nutrition. Metabolites of different medications were identified. One female neonate with an increased excretion of uracil was shown to be heterozygous for ornithine carbamyl transferase deficiency.
Subject(s)
Infant, Newborn/urine , Purine-Pyrimidine Metabolism, Inborn Errors/urine , Purines/urine , Pyrimidines/urine , Chromatography/methods , Chromatography/statistics & numerical data , Evaluation Studies as Topic , Female , Heterozygote , Humans , Male , Mass Screening , Ornithine Carbamoyltransferase/genetics , Ornithine Carbamoyltransferase Deficiency Disease , Pseudouridine/urine , Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis , Purine-Pyrimidine Metabolism, Inborn Errors/prevention & control , Sensitivity and Specificity , Spectrophotometry, Ultraviolet , Uracil/urineABSTRACT
We report a neonate with the transient form of nonketotic hyperglycinemia manifested by extreme hypotonia, lethargy, apnea, and myoclonic and generalized convulsions in early neonatal life. Despite normalization of the biochemical values, severe neurologic sequelae were observed. This case suggests that the transient form of nonketotic hyperglycinemia sometimes causes severe brain damage.
