• Online Mendelian Inheritance in Man (OMIM): ACATALASEMIA - 614097 Takahara, S. (wikipedia.org)
  • When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. (medlineplus.gov)
  • Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase. (wikipedia.org)
  • Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). (medlineplus.gov)
  • However, there was no compensatory increase in SOD or GSH reductase activities as a result of either acatalasemia or GSH-Px deficiency or as a result of oxidative challenge. (utmb.edu)
  • Like acatalasemia, hypocatalasemia usually does not cause any health problems. (medlineplus.gov)
  • Acatalasia is often the result of mutations in both copies of the CAT gene which codes for the enzyme catalase. (wikipedia.org)
  • Mutations in the CAT gene can cause acatalasemia. (medlineplus.gov)
  • A higher percentage of people with acatalasemia have type 2 diabetes than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). (medlineplus.gov)
  • Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes , which is the most common form of diabetes. (medlineplus.gov)
  • Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes in people with acatalasemia. (medlineplus.gov)
  • These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene. (medlineplus.gov)
  • More than 100 cases of acatalasemia have been reported in the medical literature. (medlineplus.gov)
  • Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. (medlineplus.gov)
  • Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. (medlineplus.gov)
  • It was concluded that acatalasemia in mice may be due to a structural gene mutation leading to the synthesis of altered subunits which exhibit peroxidatic activity but do not combine to form tetramers and express catalatic activity. (utmb.edu)
  • Instead of a very bubbling reaction, blood turns brown-colored, which means the patient suffers from acatalasia. (wikipedia.org)
  • Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase. (wikipedia.org)
  • Acatalasia is often the result of mutations in both copies of the CAT gene which codes for the enzyme catalase. (wikipedia.org)
  • Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. (medlineplus.gov)
  • A T-deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan. (nih.gov)
  • A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and western blot analyses is responsible for the type C of Hungarian acatalasemia. (nih.gov)
  • del) causing Japanese-type acatalasemia. (nih.gov)