- Lack of the enzyme called GALT (galactose-1-phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet. Galactosemia is inherited as an autosomal recessive trait. There are two forms of the disease, GALT deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the GALT deficiency is the most severe. The GALT gene is in chromosome 9p13. People with galactosemia are unable to metabolize the simple sugar galactose. Galactose makes up half of the sugar called lactose that is found in milk. Lactose is called a disaccharide, di meaning 2, since lactose is made up of two sugars, galactose and glucose, bound together. If an infant with galactosemia is given milk, galactose builds up in the infants system causing damage to the liver, brain, kidneys and eyes. Individuals with galactosemia cannot tolerate any form of milk (human or otherwise) or any other galactose-containing food. Exposure to milk products will result in liver damage, mental retardation, cataract formation, and kidney failure. Typically, a newborn infant with galactosemia, upon being fed milk, will develop jaundice, vomiting, lethargy, irritability, and convulsions. The liver is enlarged and the blood sugar may be low. Continued feeding of milk products to the infant leads to cirrhosis of the liver, cataract formation in the eye resulting in partial blindness, and mental retardation. The symptoms of galactosemia include jaundice (yellowish discoloration of the skin and the whites of the eyes), vomiting, poor feeding, poor weight gain, lethargy, irritability, convulsions, and opacities in the lenses of the eyes. The signs detected include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), aminoaciduria (amino acids are present in the urine), cirrhosis, ascites (fluid collected within the abdomen), cataracts and mental retardation. The diagnosis is usually based on the demonstration of a lack of activity of the enzyme GALT in erythrocytes (red blood cells). Prenatal diagnosis is also feasible by direct measurement of the enzyme. Once the disease is recognized, treatment consists of strictly avoiding all milk and milk containing products. The infant can be fed with soy formula, meat-base formula, or Nutramigen (a protein hydrolysate formula) or other lactose-free formula. The condition is life-long and requires abstinence from milk and milk products for life.
Medical dictionary. 2011.
Look at other dictionaries:
Deficiency, GALT — Lack of the enzyme called GALT (galactose 1 phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can… … Medical dictionary
Galactose-1-phosphate uridylyltransferase deficiency — Classification and external resources Galactose ICD 10 E … Wikipedia
Pyruvate carboxylase deficiency — Classification and external resources Oxaloacetate is the product of pyruvate carboxylase ICD 10 E … Wikipedia
Acquired Immune Deficiency Syndrome — Acquired Immune Deficiency Syndrome, auch Acquired immunodeficiency syndrome (englisch für „erworbenes Immundefektsyndrom“), zumeist abgekürzt als AIDS oder Aids benannt, bezeichnet eine spezifische Kombination von Symptomen, die beim Menschen in … Deutsch Wikipedia
Galactosemia — A genetic metabolic disease in which there is a defect in the body s ability to use the sugar galactose. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose 1 phosphate uridyl transferase). This causes … Medical dictionary
Galactosemia — Classification and external resources Galactose ICD 10 E … Wikipedia
Galactosemic cataract — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICD9|366.44, ICD9|271.1 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = A Galactosemic cataract is cataract which is associated with the consequences of… … Wikipedia
Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 … Wikipedia
Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 … Wikipedia
Lactose intolerance — Classification and external resources Lactose (disaccharide of β D galactose β D glucose) is normally split by lactase. ICD 10 … Wikipedia