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Glossary for Thiamine responsive megaloblastic anemia syndrome

  • Aminoaciduria: A protein metabolism disorder where excess amino acids are present in the urine.
  • Blood conditions: Conditions that affect the blood
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Deficiency conditions: Medical conditions related to a nutritional deficiency.
  • Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Endocrine system conditions: Medical conditions affecting the endocrine systems, such as the related hormones or glands.
  • Enlarged liver: Swelling of the liver.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hoarse: Hoarseness or loss of voice
  • Megaloblastic anemia: A rare blood disorder where insufficient vitamin B12 absorption results in reduced production of red blood cells and increased levels of abnormal, enlarged red blood cells (megaloblasts). Vitamin B12 insufficiency can result from absorption problems or lack of dietary intake of the vitamin or folic acid.
  • Nerve deafness: A condition which is characterized by deafness caused by a problem with the neurological supply
  • Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.
  • Swollen spleen: Swelling or enlargement of the spleen


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