Galactosemia Aminoaciduria

Laboratory procedures specific to galactosemia are dealt with below, but a number of other tests are also of value. Liver function tests, though sometimes helpful, are not always informative (see above, Section 2.2). Protein is usually present in the urine in untreated cases, but this occurs in other diseases. Aminoaciduria is a very common finding in galactosemia, though Holzel (H3) states it is absent in some older children with a mild form of galactosemia aminoaciduria occurs in other diseases and is frequently accompanied by proteinuria and glucosuria. 

The Editors have striven, as in previous years, to include in the present volume reviews on greatly diversified subjects, all of timely importance. The article on mellituria in Volume 4 has been supplemented by a survey of galactosemia, and we expect to follow in future volumes with reviews of other inborn errors of metabolism or, in modern parlance, of molecular diseases. Likewise, the article on peptiduria supplements that on aminoaciduria in Volume 2 and that on microbiological assay of vitamins extends previous summaries on the nucleogenic vitamins. The haptoglobins lie on the borderline of hematology. 

A number of inherited conditions are now known in which some degree of renal aciduria has been found. These include diseases as diverse as cystinuria, galactosemia, and Wilson s disease. In the last of these the aminoaciduria is probably a consequence of renal tubular damage secondary to excessive copper deposition (H2). 

The symptoms of acute intoxication may be very similar to that of other diseases (Box 5.3), may often lead to a misdiagnosis and, at times, death. On the other hand, some metabolic disorders can predispose a neonate to frequent neonatal period complications such as infections like E. coli sepsis in children with galactosemia or hematological complications such as central nervous system hemorrhage in hyperammonemia or thrombocytopeiua due to bone marrow suppresion in some aminoacidurias [2,7],... 

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