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Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridylyltransferase). In individuals with galactosemia, GALT activity is severely diminished, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%. more...

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Goppert first described the disease in 1917. Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan.


There are two variants of the gene responsible for galactosemia.

  • One variant causes so-called classic galactosemia, in which there is an extreme deficiency in galactose-1 phosphate uridyltransferase. It is an autosomal recessive condition. The gene for GALT was mapped at 9p13. Most serious conditions are prominant.
  • The variant gene, responsible for Duarte galactosemia, leads to about half the normal levels of GALT. Individuals with Duarte galactosemia may experience few or none of the serious symptoms of classic galactosemia.

The severity of the symptoms is dependent on a number of factors, most importantly the amount of lactose in the individual's diet. It is also possible to have one each of the classic and Duarte genes, in which case GALT activity is intermediate.


Infants are now routinely screened for galactosemia in the United States, these diagnoses are often made early.


The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. Even with an early diagnosis and a restricted diet, however, some individuals with galactosemia experience long-term complications such as learning disability, and in girls, ovarian failure. Such complications have not been associated with Duarte galactosemia, and many individuals with Duarte galactosemia do not need to restrict their diet at all.

Galactosemia is sometimes confused with lactose intolerance, but the galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase, and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a galactosemic individual who consumes galactose can cause permanent damage to their bodies.


  • Goppert F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 1917;54:473-477.


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Fanconi's syndrome
From Gale Encyclopedia of Medicine, 4/6/01 by Lorraine Lica


Fanconi's syndrome is a set of kidney malfunctions brought about by a variety of seemingly unrelated disorders. Kidney malfunction leads to excessive urine production and excessive thirst, resulting in deficits of water, calcium, potassium, magnesium, and other substances in the body. It often leads to bone disease and stunted growth.


Normally, kidneys cleanse the blood and keep its salt, water, and acidity in balance, leaving what the body needs in the blood and putting what the body doesn't need into the urine, which leaves the body. This task is performed in two steps. First, the blood is filtered through a kidney structure with small holes that keep the cells and large molecules in the blood. Second, some of the small molecules in the filtrate, needed by the body, are reabsorbed and returned to the bloodstream.

This reabsorption step is defective in Fanconi's syndrome. As a consequence, substances that are normally reabsorbed, like glucose, amino acids, small proteins, water, calcium, potassium, magnesium, bicarbonate, and phosphate, are lost and the body becomes overly acidic.

Fanconi's syndrome is also known as Fanconi syndrome, renal Fanconi syndrome, Fanconi renaltubular syndrome, and Lignac-de Toni-Debré-Fanconi syndrome. Fanconi's anemia is, however, a totally different disease.

Causes & symptoms


Fanconi's syndrome can be caused by a variety of genetic defects and by certain environmental assaults.

The genetic diseases known to give rise to Fanconi's syndrome are cystinosis (the most common cause in children), galactosemia, glycogen storage disease, hereditary fructose intolerance, Lowe syndrome, Wilson disease, tyrosinemia, medullary cystic disease, vitamin D dependency, and familial idiopathic Fanconi's syndrome.

Environmental assaults that cause Fanconi's syndrome include exposure to heavy metals (like cadmium, lead, mercury, platinum, uranium), certain drugs (like outdated tetracycline and gentamicin), other substances (like Lysol, paraquat, toluene, the amino acid lysine taken as a nutritional supplement), and kidney transplantation.


Fanconi's syndrome symptoms related directly to impaired absorption include excessive urine production and urination; excessive thirst; dehydration; constipation; anorexia nervosa; vomiting; elevated levels of glucose, phosphate, calcium, uric acid, amino acids, and protein (especially beta2-microglobulin and lysozyme) in the urine; elevated levels of chloride and decreased levels of phosphate and calcium in the blood; and excessively acidic blood.

The most noticeable indirect consequences of impaired reabsorption are the bone diseases, rickets and osteomalacia. Rickets affects children and is associated with bone deformities, failure to grow, and difficulty walking. If a person acquires Fanconi's syndrome as an adult, the bone disease is termed osteomalacia and is accompanied by severe bone pain and spontaneous fractures. Unlike rickets due to malnutrition, these diseases cannot be reversed with vitamin D. Muscle weakness and occasional paralysis are other indirect consequences of the ineffective reabsorption.


Diagnosis of Fanconi's syndrome can be made by urine and blood tests. It is also important to find the underlying cause to decide on the best treatment. Other symptoms specific to a particular patient will point to other useful diagnostic tests. For example, high levels of blood galactose in conjunction with symptoms of Fanconi's syndrome indicate the patient is suffering from galactosemia, while high blood levels of cadmium indicate the patient is suffering from cadmium poisoning.


Fanconi's syndrome is best treated by attacking the underlying cause whenever possible. For example, when cystinosis is treated with the drug cysteamine to lower cystine levels in the body or Wilson disease is treated with penicillamine to lower the levels of copper, accompanying symptoms of Fanconi's syndrome will subside. If the patient has acquired the disease from a heavy metal or another toxic agent, all contact with the toxic agent should stop; the condition will then likely disappear.

Nevertheless, additional treatment will be necessary either when it's not possible to treat the underlying cause or while waiting for the kidneys to resume normal function. This is done by restricting sodium chloride (table salt), giving antacids to counteract the excessive acidity of the blood, and supplying potassium supplements.

Kidney transplant is the treatment of last resort, used for patients whose kidneys have failed.


Fanconi's syndrome can be reversible. Fanconi's syndrome caused by kidney transplantation usually reverses itself within the first year after transplant surgery. When caused by a toxin in the environment, Fanconi's syndrome generally can be reversed by removing the causative agent from the patient's environment. If it is caused by a genetic disease, it can usually be reversed by treating the disease. However, if Fanconi's syndrome is not treated or if treatment is unsuccessful, the kidneys can fail.


Fanconi's syndrome caused secondarily by the genetic diseases galactosemia, glycogen storage disease, hereditary fructose intolerance, and tyrosinemia is prevented by appropriate dietary restrictions to treat the genetic disease, starting in infancy.

Fanconi's syndrome caused by heavy metals and other toxins can be prevented by avoiding these substances.

Key Terms

Condition where the body is more acidic than normal; associated with headache, nausea, vomiting, and visual disturbances.
Fanconi's anemia
An inherited form of aplastic anemia.
The part of filtered material that flows through the filter.
Refers to a disease of unknown cause.
Excessive thirst.
Excessive production of urine.

Further Reading

For Your Information


  • Bergeron, Michael, André Gougoux, and Patrick Vinay. "The Renal Fanconi Syndrome." In The Metabolic and Molecular Bases of Inherited Disease, 7th ed., edited by Scriver, Charles R., et al. New York: McGraw-Hill, 1995.


  • The American Society of Nephrology. 1200 19th Street NW, Washington, DC 20036. (202) 857-1190.
  • National Kidney Foundation. 30 East 33rd Street, New York, NY 10016. (800) 622 9010.


  • OMIM Homepage, Online Mendelian Inheritance in Man. Searchable Database.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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