Symptomatic effect of galactosemia deficiency

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Symptomatic effect of galactosemia deficiency

Duarte variant galactosemia General Discussion Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose a sugar contained in milk, including human mother's milk to glucose a different type of sugar.

The disorder is caused by a deficiency of an enzyme galactosephosphate uridyl transferase GALT which is vital to this process.

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Early diagnosis and treatment with a lactose-free diet is absolutely essential to avoid profound intellectual disability, liver failure and death in the newborn period.

Galactosemia is inherited as an autosomal recessive genetic condition. Classic galactosemia and clinical variant galactosemia can both result in life-threatening health problems unless treatment is started shortly after birth.

A biochemical variant form of galactosemia termed Duarte is not thought to cause clinical disease. Yellowing of the skin, mucous membranes, and whites of the eyes jaundiceenlargement of the liver hepatomegalyappearance of amino acids and protein in the urine, growth failure, and, ultimately, accumulation of fluid in the abdominal cavity ascites with abdominal swelling edema may also occur.

Diarrhea, irritability, lethargy and a bacterial infection may also be early signs of galactosemia. In time, wasting of body tissues, marked weakness, and extreme weight loss occur unless lactose is removed from the diet. Children with galactosemia who have not received early treatment may show arrested physical and mental development and are particularly susceptible to cataracts in infancy or childhood.

In severe cases, overwhelming infection can cause life-threatening complications, but mild cases present few symptoms and no serious impairment s.

Children treated with this special diet usually show satisfactory general health and growth.

They can make reasonable, though often not optimal, intellectual progress. Speech and learning difficulties and some behavioral problems are still likely to occur. Ovarian impairment is almost always seen in girls with classic galactosemia and is associated with an increase in the blood level of the gonadotropin hormone Follicle-Stimulating Hormone FSH ; males with galactosemia do not usually exhibit abnormalities in gonadal function.

Symptomatic effect of galactosemia deficiency

The above-mentioned complications associated with classic galactosemia and clinical variant galactosemia have not occurred in individuals with Duarte variant galactosemia, which is the best example of biochemical variant galactosemia subdivision.

Significant debate exists in the medical literature as to whether individuals with Duarte variant galactosemia need to maintain a special diet.

Symptomatic effect of galactosemia deficiency

Causes Galactosemia is an autosomal recessive hereditary disorder caused by a deficiency of the enzyme galactose phosphate uridyl transferase GALT that is needed for the breakdown of the milk sugar, galactose.

Deficiency of this enzyme results in the accumulation of toxic products: Galactitol accumulates in the lens of the eye where it causes lens swelling and protein precipitation and, subsequently, cataracts. Accumulation of galactosephosphate is thought to cause the other signs and symptoms of disease.

Recessive genetic diseases are determined by two genes, one received from the father and one from the mother. They occur when an individual inherits the same abnormal gene for the same trait from each parent.

If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. Galactosemia occurs due to disruptions or changes mutations of the GALT gene.

The abnormal accumulation of galactose-related chemicals in various organs of the body causes the signs and symptoms and physical findings of galactosemia.

The disorder has been reported in all ethnic groups. An increased frequency of galactosemia occurs in individuals of Irish ancestry. Related Disorders Symptoms of the following disorders can be similar to those of galactosemia.

Comparisons may be useful for a differential diagnosis: Galactokinase GALK deficiency is associated with cataracts, increased blood concentration of galactose and increased concentration of galactitol in the urine.

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The severe form has been reported in only 7 patients. Lactose intolerance LI is a metabolic disorder characterized by the inability to break down lactose, the predominant sugar found in milk and milk products. People with LI cannot properly digest lactose because they lack or are deficient in the intestinal enzyme lactase which is key to the digestion of lactose.

Symptoms are more severe when they occur in a newborn. The signs of congenital lactose intolerance are apparent soon after birth and usually include severe diarrhea, vomiting, abnormally low levels of body fluids dehydrationand failure to thrive.

Some infants may also have liver and kidney impairment. Neonatal hepatitis may be caused by viruses, metabolic disease or genetic disorders, as well as other rare diseases that affect or impair the function of the liver.

In some children, the cause of liver injury is unknown — these cases are referred to as idiopathic neonatal hepatitis INH. The signs of idiopathic neonatal hepatitis may vary greatly from one individual to another. Findings common to liver disease often occur including yellowing of the whites of the eyes and the skin jaundiceenlargement of the liver hepatomegaly and unusually dark urine.

Most individuals with idiopathic neonatal hepatitis fully recover from the condition; however, some will progress to chronic liver disease.Galactosemia is a disorder caused by the galactosephosphate deficiency.

It is an autosomal recessive disorder resulting from an abnormality of the GALT gene on chromosome 9. It is an autosomal recessive disorder resulting from an abnormality of the GALT gene on chromosome 9.

Reactive hypoglycemia, postprandial hypoglycemia, or sugar crash is a term describing recurrent episodes of symptomatic hypoglycemia occurring within four hours after a high carbohydrate meal in people both with and without diabetes.

The term is not a diagnosis per se since it requires an evaluation to determine the cause of the hypoglycemia. The condition is related to homeostatic systems. 1.


A year-old female presents with complaints of intestinal bloating, gas, cramps, and diarrhea following a meal including dairy products. A lactose-tolerance test confirms that she has a deficiency .

Whereas classic galactosemia completely prevents the normal processing of galactose, the Duarte variant only reduces enzyme activity by ~75%, but not by % as in classic galactosemia. Children with Duarte galactosemia usually do not have serious health effects and may or may not need treatment.

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular .

Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E. coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented.

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