Tryosinemia

 

                                                              

 

An autosomal (from both parents) genetic disorder where the body cannot metabolize the amino acid tyrosine.  This can result in damage to the liver, kidneys, nervous system, and other tissues.  There are three types of tyrosinemia caused by deficiencies in different enzymes that affect tyrosine, each with distinctive symptoms.  Type 1 tryosinemia, the most serious, is noticed in the first few weeks of life, whrn the infant does not gain weight.  Other symptoms are vomiting, diarrhea, jaundice, a cabbage-like odor, and nose bleeds.  Liver and kidney failure and problems with the nervous system  can occur.  There is an increased risk of cancer.  It is most common among people of French Canadian or Scandinavian descent.  Type 2 tryosinemia affects they eyes, skin, and mental development.  Symptoms begin in infancy and include excessive tearing of the eyes, abnormal sensitivity to light, eye pain and redness, skin sores on the soles and palms, and mental retardation.  Type 3 tryosinemia is quite rare, and includes mental retardation, seizures, and loss of balance and coordination.