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Galactosemia is the name of a metabolic disorder In this disorder an enzyme is missing that is needed to?
Wiki User
∙ 13y ago
...that is needed to break down galactose.
Wiki User
∙ 13y ago
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The lack of which enzyme causes galactosemia?
Galactosemia is a genetic disorder which is caused by a lack of the GALT enzyme. This is essential in breaking down the milk sugar galactose.
How are the newborn babies controlled for galactosemia?
Galactosemia occurs when an enzyme, called 'galactose-1-phosphate uridyl transferase' (GALT) is either missing or not working properly so the children are examined carefully for this enzyme
What is the genetic disorder characterized by a missing digestive enzyme?
Phenylketonuria
What is a genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing is known as?
phenylketonuria
What causes galactosemia II?
Galactosemia II is caused by defects in both copies of the gene that codes for an enzyme called galactokinase (GALK). The frequency of occurrence of galactosemia II is about one in 100,000-155,000 births.
What is mannosidosis?
Mannosidosis is an inherited metabolic disorder caused by deficiency of the enzyme mannosidase in your body.There are two types:Alpha-mannosidosisBeta-mannosidosisMore detailed information can be found on Wikipedia.
What does Galactosemia do?
Galactosemia is an enzyme deficiency that can severely affect newborns.Classic Galactosemia is a rare genetic metabolic disorder. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Patients who inherit the classic galactosemia gene from each parent are sometimes described as having the genetic makeup "G/G". Normally when a person consumes a product that contains lactose (e.g., dairy products such as milk, cheese, butter), the body breaks the lactose down into galactose and glucose. Glucose is the sugar used by the body for energy. Galactosemia means too much galactose in the blood caused by the individual "missing" the enzyme (known as GALT) to convert galactose into glucose. This accumulation of galactose is a poison to the body and can cause serious complications such as the following and if untreated, as high as 75% of infants will die:enlarged liverkidney failurecataractbrain damageDiagnosis is made usually within the first week of life by blood test from a heel prick as part of a standard newborn screening. Treatment requires the strict exclusion of lactose/galactose from the diet. Although galactosemic children are started on diet restriction at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays and specific learning disabilities. Ovarian failure may occur in girls. Prenatal diagnosis by amniocentesis is also available.(from related link)
Why does congenital galactosemia appear only into infants?
Galactosemia is a condition where infants have trouble digesting lactose to the point where it could harm their organs. People's systems get stronger as people age so older children are no longer affected by the condition.
Is Lactose intolerance dominant or recessive trait?
Galactosemia is an autosomal recessive trait.
What causes Galactosemia?
Galactosemia is a very rare disease that is received through a recessive trait. It is hardly diagnosed but can also be very easily confused with lactose intolerance. Though the two can be very similar but they are very different. Galactosemia is when your body cannot process galactose and lactose intolerance is when your body cannot process lactose. Lactose and galactose can be found in generally the same food group, dairy. The very important difference between the two is that lactose intolerance causes the symptoms of gas, cramps and diarrhea and galactosemia causes excess fat to build up in the brain, cause mental retardation and finally death.
What is its genetic link of metabolic disorders to our ancestors?
In inherited metabolic disorders, a single enzyme is either not produced by the body at all, or is produced in a non-working form. The missing enzyme is like an absentee worker on the assembly line. Depending on that enzyme's job, its absence means toxic chemicals may build up, or an essential product may not be produced. The code or blueprint to produce an enzyme is usually contained on a pair of genes. Most people with inherited metabolic disorders inherit two defective copies of the gene -- one from each parent. Both parents are "carriers" of the bad gene, meaning they carry one defective copy and one normal copy. In the parents, the normal gene copy compensates for the bad copy. Their enzyme levels are usually adequate, so they may have no symptoms of a genetic metabolic disorder. However, the child who inherits two defective gene copies cannot produce enough effective enzyme and develops the genetic metabolic disorder. This form of genetic transmission is called autosomal recessive inheritance. The original cause of most genetic metabolic disorders is a gene mutation that occurred many, many generations ago. The gene mutation is passed along through the generations, ensuring its preservation. Inheritance of Metabolic disorders refers to whether the condition is inherited from your parents or "runs" in families. The Signs and symptoms wont be seen in the parents but will be evident in the child. That's why baby genetic screening is important to rule out metabolic disorders. On a more general note, usually, the defective gene which would eventually cause the metabolic disorder has been present in the past generations. It remains dormant or at times is even seen but it is not very serious and hence goes unattended. But for some reason, it gets manifested in the child now and may be it is very serious, that is when it hampers the growth of the child. If detected and diagnosed early in life, the disorder can be managed well and prevent some fatal regressions in the child.
What compounds catalyze metabolic reactions?
They are called enzymes; each one is specific for one metabolic reaction.
