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Acatalasia (Acatalasemia)

A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.

Also Known As:

Acatalasemia; Hypocatalasemia; Hypocatalasia; Takahara Disease; Takahara's Disease; Disease, Takahara; Disease, Takahara's; Takaharas Disease

Networked: 66 relevant articles (0 outcomes, 5 trials/studies) for this Disease, Comments

Disease Context: Research Results

Related Diseases

1.	Acatalasia (Acatalasemia)
2.	Zellweger Syndrome (Zellweger's Syndrome)
3.	Fibrosis (Cirrhosis)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Rhizomelic Chondrodysplasia Punctata

Experts

1.	Góth, L: 4 articles (09/2001 - 04/2000)
2.	Wang, Da-Hong: 3 articles (09/2009 - 01/2008)
3.	Ogino, Keiki: 3 articles (09/2009 - 01/2008)
4.	Masuoka, Noriyoshi: 2 articles (09/2009 - 01/2008)
5.	Taniuchi, Koji: 1 article (09/2009)
6.	Tanaka, Miho: 1 article (09/2009)
7.	Takemoto, Kazunori: 1 article (09/2009)
8.	Nishihara, Ryou: 1 article (09/2009)
9.	Iwata, Hiroshi: 1 article (09/2009)
10.	Ishihara, Kohji: 1 article (09/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acatalasia:

1.	CatalaseIBA 12/01/2008 - "Studies of residual catalase in Swiss, mouse and beagle dog acatalasemia showed that aberrant catalase protein degrades more quickly than normal catalase in cells. " 12/15/1980 - "These studies indicate that acatalasemia in mice is due to a structural gene mutation which leads to synthesis of structurally altered catalase subunits. " 09/25/2001 - "A novel catalase mutation (a G insertion in exon 2) causes the type B of the Hungarian acatalasemia." 03/01/2001 - "A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia." 01/01/2001 - "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." Order ALL the reference details at left...
2.	Hydrogen Peroxide (Hydroperoxide)IBA 11/01/1985 - "Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide." 10/01/1998 - "This may be one of the reasons why acatalasemic mice suffer no health problems while Japanese acatalasemic patients suffer from Takahara disease when infected with hydrogen peroxide-generating bacteria." 07/01/2004 - "Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia." 09/01/2009 - "BACKGROUND: Hydrogen peroxide is enzymatically processed by catalase, and catalase deficiency in blood is known as acatalasemia. " 03/01/1972 - "Effects of local applications of microencapsulated catalase on the response of oral lesions to hydrogen peroxide in acatalasemia." Order ALL the reference details at left...
3.	Messenger RNA (mRNA)IBA 01/01/1988 - "We conclude that Japanese-type acatalasemia in this study is resulted by a small mutation in the non-coding region of catalase gene which affects some step in the catalase mRNA metabolism." 12/01/2008 - "Japanese acatalasemia-I, the G to A transition at the fifth position of intron 4 of the catalase gene, limited the correct splicing of the mRNA and synthesized trace catalase with normal properties. " 01/01/1988 - "Diminished synthesis of catalase due to the decrease in catalase mRNA in Japanese-type acatalasemia." 09/25/1987 - "In order to determine the molecular basis for Csb acatalasemia, we have isolated a cDNA clone for murine catalase and have used this probe to analyze Csa and Csb genomic DNA and catalase mRNA. " Order ALL the reference details at left...
4.	polyacrylamideIBA 01/01/1983 - "Polyacrylamide gradient gel electrophoretic studies of residual catalase in acatalasemia." Order ALL the reference details at left...
5.	MercuryIBA 05/01/1982 - "The results are consistent with the increased oxidation and uptake of mercury in the liver by acatalasemia mice." 03/15/1978 - "Mercury uptake by acatalasemia mice and their erythrocytes, lung and liver homogenates." 01/01/1983 - "The oxidation of metallic mercury by catalase in relation to acatalasemia." 01/01/1983 - "The authors described the oxidation of metallic mercury by human blood cells having different catalase activities, hypocatalasemia and acatalasemia, with or without hydrogen peroxide. " Order ALL the reference details at left...
6.	Glucosephosphate Dehydrogenase (Glucose 6 Phosphate Dehydrogenase)IBA 12/10/1966 - "[Glucose-6-phosphate dehydrogenase activity in the red blood cell in hypo-catalasemia and acatalasemia]" 07/01/1963 - "A DUAL HEREDITARY RED BLOOD CELL DEFECT IN ONE FAMILY: HYPOCATALASEMIA AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY." 05/01/1977 - "Glucose-6-phosphate dehydrogenase activity in erythrocytes was not significantly different between normal, hypocatalasemia and acatalasemia in three families of acatalasemia, but in one family lower activities than normal were found in hypocatalasemia and actalasemia erythrocytes. " 05/01/1977 - "Activities of catalase in leucocytes and glucose-6-phosphate dehydrogenase in erythrocytes of hypocatalasemia and acatalasemia." Order ALL the reference details at left...
7.	Amitrole (Aminotriazole)IBA 04/01/1983 - "ELC was normal in the leukocytes of two subjects homozygous for Swiss-type acatalasemia, and aminotriazole enhanced ELC in these cells to an extent not significantly different from that observed in normal cells. " 05/01/1975 - "The kinetics of catalase synthesis and degradation were determined in acatalasemia and normal mouse livers during recovery of catalase activity after inhibition with aminotriazole. " 05/01/1975 - "Recovery of catalase activity after inhibition with aminotriazole in acatalasemia mice." 04/01/1977 - "That the oxidation process is, at least in part, catalyzed by the enzyme, catalase, explains the effects of ethanol, aminotriazole and the state of acatalasemia on the metabolism of inhaled vapor in man and animals. " Order ALL the reference details at left...
8.	Complementary DNA (cDNA)IBA 12/31/1990 - "In order to pinpoint the molecular lesion that imparts the acatalasemia phenotype in Csb mice we have utilized the polymerase chain reaction technique to isolate catalase cDNA clones from control and Csb mouse strains. " 09/25/1987 - "In order to determine the molecular basis for Csb acatalasemia, we have isolated a cDNA clone for murine catalase and have used this probe to analyze Csa and Csb genomic DNA and catalase mRNA. " Order ALL the reference details at left...
9.	Proteins (Proteins, Gene)IBA 12/01/2008 - "In the Japanese acatalasemia II and the type A and B of Hungarian acatalasemia, the deletion or insertion of nucleotides was observed in the coding regions, and the frame shift altered downstream amino acid sequences and formed truncated proteins. " 03/01/2001 - "Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. " Order ALL the reference details at left...
10.	DNA (Deoxyribonucleic Acid)IBA 10/01/1997 - "These findings represent further evidence that acatalasemia is heterogeneous at the DNA level." 09/25/1987 - "In order to determine the molecular basis for Csb acatalasemia, we have isolated a cDNA clone for murine catalase and have used this probe to analyze Csa and Csb genomic DNA and catalase mRNA. " Order ALL the reference details at left...

Therapies and Procedures

1.	Peritoneal Dialysis 01/01/2008 - "CONCLUSIONS: Acatalasemia, therefore, exacerbates oxidant tissue injury and induces the peritoneum to develop irreversible fibrosis which is the most important complication of peritoneal dialysis. " Order ALL the reference details at left...

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