Galactosemia Screening

Galactosemia screening is a hereditary disease in which the newborn is an increase in galactose in blood and urine. The main symptoms are nutritional disorders, cataracts, mental retardation and hepatosplenomegaly. The disease occurs in people who are congenitally deficient in galactose-1-phosphate uridine transferase. When there is no galactose in the food, the symptoms can be improved. Typically, the disease occurs during the perinatal period, and vomiting, refusal to eat, weight loss, and lethargy often occur several days after feeding the milk, followed by jaundice and liver enlargement. If you can not continue to feed the milk in time, it will lead to further deterioration of the disease, and end-stage symptoms such as ascites, liver failure, and hemorrhage occur within 2 to 5 weeks. If a slit lamp is used for examination, crystal cataract formation can be found early in the onset of the disease. About 30% to 50% of children have Escherichia coli sepsis in the first week of the disease, which makes the condition worse. Basic Information Specialist classification: growth and development examination classification: blood examination Applicable gender: whether men and women apply fasting: fasting Analysis results: Below normal: It is usually normal. Normal value: Normal value: 1-120mg/L Above normal: Most children have galactose in their milk or artificially fed milk several days after birth. negative: Positive: Tips: Choose plant or animal protein with high nutritional value, such as milk, eggs, fish, lean meat, various soy products. Normal value The normal range is 1-120 mg/L. Clinical significance Abnormal result 1. Acute course: Most children have lactation, vomiting, nausea, diarrhea, weight loss, hepatomegaly, jaundice, bloating, hypoglycemia, proteinuria, etc. due to galactose in lactation or artificial feeding of cow milk several days after birth. . Those with the above manifestations should consider that galactosemia may require the relevant laboratory tests, and if they can be detected and taken in time, cataracts and mental retardation may occur rapidly. 2, mild course: no more acute symptoms, but with the gradual emergence of dysphonia dysfunction and cirrhosis. 3, other: such as false brain tumors, for a rare performance, this system of galactose accumulation in the brain followed by conversion to galactitol sputum caused by cerebral edema and increased intracranial pressure. The newborns in need of examination have symptoms such as breastfeeding, vomiting, nausea, diarrhea, weight loss, liver enlargement, jaundice, bloating, hypoglycemia, and proteinuria. High results may be diseases: precautions for galactosemia in children Taboo before the examination: poor rest, improper diet, excessive fatigue. Requirements for inspection: Actively cooperate with the doctor's work. Inspection process 1. Neonatal screening can not only achieve early diagnosis and treatment through group screening of newborns, but also provide information for genetic counseling and family planning. Most screening centers use two methods: Beutler test: galactose-1-phosphate urinyl transferase activity for the detection of blood droplets, with the disadvantage that the false positive rate is too high. The Paigen test is a semi-quantitative method for the detection of galactose and galactose-1-phosphate on blood droplets. The advantage is that there are few false positives and all three enzyme defects can be detected. Screening with a dual mass spectrometer (tandemMS) is especially convenient and correct. 2, the determination of reducing sugar in urine: children with suspected symptoms must promptly check whether the urine contains reducing sugar. There may be more types of reducing sugars in the urine, such as glucose, galactose, lactose, fructose and pentose. Therefore, when the qualitative test is positive, it should be further identified by filter paper or thin layer chromatography. 3, enzymological diagnosis: peripheral blood red, white blood cells, skin fibroblasts, or liver biopsy tissue, etc. are available for the determination of enzyme activity, red blood cells are most convenient. The enzymatic activity of children with homozygous disease is absent or low; the enzymatic activity of heterozygous carriers is 50% of normal people. In recent years, through the study of the characteristics of enzyme defects, various variants of the disease have been discovered. Among them, the Duarte type is the most common. The homozygous Duarte type enzyme activity is 50% normal, and the heterozygous Duarte type is 75%. Since it is not clinically symptomatic, it can only be found by group screening. "Negro" type red blood cells lack transferase activity, but their liver, intestines and other tissues still have some enzyme activity, so the clinical is also asymptomatic. 4. Others: When necessary, liver function, blood coagulation mechanism, blood sugar, blood electrolytes, blood and urine culture should be tested for diagnosis. Other auxiliary examinations: routine X-ray, B-ultrasound, etc., can be found in liver enlargement, cirrhosis, splenomegaly, ascites and so on. Slit lamp examination, cataract can be found, and fundus lesions such as retinal detachment and intraocular hemorrhage can be found. An abnormality waveform can be found by an EEG. Not suitable for the crowd 1. Patients who have taken contraceptives, thyroid hormones, steroid hormones, etc., may affect the results of the examination and prohibit patients who have recently taken the drug history. 2, special diseases: patients with hematopoietic function to reduce disease, such as leukemia, various anemia, myelodysplastic syndrome, etc., unless the examination is essential, try to draw less blood. Adverse reactions and risks 1, subcutaneous hemorrhage: due to pressing time less than 5 minutes or blood draw technology is not enough, etc. can cause subcutaneous bleeding. 2, discomfort: the puncture site may appear pain, swelling, tenderness, subcutaneous ecchymosis visible to the naked eye. 3, dizzy or fainting: in the blood draw, due to emotional overstress, fear, reflex caused by vagus nerve excitement, blood pressure decreased, etc. caused by insufficient blood supply to the brain caused by fainting or dizziness. 4. Risk of infection: If you use an unclean needle, you may be at risk of infection.