The diagnosis of hereditary galactosemial is often overlooked, which may have serious consequences for the patient. Considerable effort is at present being made to find a suitable screening method for the detection of galactosemia in newborn infants (1,15,30,33). Recently we had a patient in which the diagnosis was stated 9 days after birth, at which time the patient was in a very bad condition. Urine and blood were analyzed for galactose and amino acids with samples obtained immediately after the introduction of a galactose-free diet. Quantitative analysis of galactose in blood and urine was performed, and the urine was also analyzed with a recently developed galactose-specific test paper. Analysis for galactitol and galactose-1phosphate was performed. The diagnosis of hereditary galactosemia was confirmed by assay of galactose-I -phosphate uridyl transferase (E.C. 2.7.7.12.) activity in blood samples both from the patient and from his parents.
CASE REPORTThe patient is a boy, born on December 12th, 1966. He is the first child of healthy parents without known Hereditary galactose intolerance has been proposed as a more logical name for this disease (6). There exist, however, several earlier names for the disease, and the nomenclature becomes still more complicated by the recent discovery of an additional form of galactosemia (galactose intolerance) due to galactokinase (E.C. 2.7.1.6.) deficiency (12). We will therefore in this article use the name hereditary galactosemia, which is a t present the most generally accepted name.consanguinity. Delivery was normal and the birth weight 3780 g. From the third day of life he suffered from an increasing degree of icterus, and at the same time became indolent and difficult to feed. No blood group incompatibility could be demonstrated. At 6 days of age he had a serum bilirubin value of 29.5 mg/100 ml and his weight was 15 % below the birth weight. H e was admitted to the University Hospital of Gothenburg on the 7th day of life. H e haa an increased muscular tonus and later got convulsions with opisthotonus. Lumbar puncture was performed, and the liquor was found to have a high protein and cell content (208-232 mg % protein and 21-110 white blood cells/mm", mainly mononuclear). Since meningitis could be suspected antibiotics were given. Between the 7th and 9th day of life exchange blood transfusion was performed three times, but the serum bilirubin concentration still remained high. On the 8th day of life the boy began vomiting, liver enlargement was noted and the cerebral symptoms became accentuated with lethargy and failure to eat.A positive test for reducing sugars in urine had been obtained already on the 6th day after birth. A repeated test was performed on the 7th day, and also this was positive while a t the same time Clinistix@ was negative. Hereditary galactosemia was then suspected, and special tests for this disease were performed on the 8th day of life (see below) which confirmed the diagnosis. A routine blood test for phenylalanine (screening with the Gutrie te...