Galactosemia Diagnosis

Galactosemia can be diagnosed based on symptoms in children, such as blood, urine galactose levels increased, high-chloride acidosis, proteinuria, urine amino acids and low blood sugar, as well as abnormal liver function.

Some laboratory tests use to confirmed diagnosis for Galactosemia include:

1. Screening of the neonatal period. For groups of newborn screening can be achieved not only early diagnosis and treatment of the purpose, but also to provide genetic counseling and family planning information. The majority of screening centers are selected in two ways: Beufler paper tests for the detection of blood galactose of -1 - the transfer of acid phosphatase activity of uridine, the drawback is the high rate of false-positive; Paigen test was used to detect paper blood galactose and galactose-l-phosphate of the semi-quantitative methods, the advantages are very few false positives, and three kinds of enzyme deficiencies can be detected. Application of dual-mass spectrometer (tandem MS) is especially convenient for screening, and correctly.

2. Determination of reducing sugar in urine. On children with suspected symptoms should be timely to check whether there is any reducing sugar in urine. Urine may be more types of emissions from reducing sugar such as glucose, galactose, lactose, fructose and pentose and so on, so positive in the qualitative test should be used to further filter paper or thin layer chromatography method of identification.

3. Enzymology tests. Peripheral blood red and white blood cells, skin fibroblasts or liver biopsy for the determination of enzyme activity, etc. so as to facilitate the most red blood cells. This disease in children with homozygous absence of activity or even lower; heterozygous carriers compared with the normal activity of 50%. In recent years, the characteristics of enzyme deficiencies in the findings of a study of a variety of the disease variant. Among them, the most common type in Duarte. Duarte homozygous for the normal-type activity of 50% of the Duarte type heterozygosity reached 75%, due to not showing clinical symptoms, it is only through screening can only be found in groups. "Negro" a lack of transfer of red blood cell-based activity, but the liver, intestines and other organizations, there is still some activity, it is also the clinical symptoms.

4. Need to be detected liver function, blood coagulation mechanism, blood glucose, blood electrolytes and blood, urine culture and other projects to facilitate the Galactosemia diagnosis.