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Acatalasia

MedGen UID:
75679
Concept ID:
C0268419
Disease or Syndrome
Synonyms: Acatalasemia; ACATALASEMIA, HUNGARIAN TYPE; Catalase deficiency
SNOMED CT: Takahara disease (267454002); Acatalasia (267454002); Acatalasemia (267454002); Catalase deficiency (267454002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CAT (11p13)
 
Monarch Initiative: MONDO:0013571
OMIM®: 614097
Orphanet: ORPHA926

Definition

Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia (Ogata, 1991). [from OMIM]

Additional description

From MedlinePlus Genetics
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.

Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene.

Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes, which is the most common form of diabetes. 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). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.  https://medlineplus.gov/genetics/condition/acatalasemia

Clinical features

From HPO
Reduced circulating catalase activity
MedGen UID:
868475
Concept ID:
C4022869
Finding
Activity or concentration of catalase in the blood circulation below the lower limit of normal.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcatalasia
Follow this link to review classifications for Acatalasia in Orphanet.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Pérez-Estrada JR, Hernández-García D, Leyva-Castro F, Ramos-León J, Cuevas-Benítez O, Díaz-Muñoz M, Castro-Obregón S, Ramírez-Solís R, García C, Covarrubias L
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Diagnosis

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Therapy

Mao X, Bharti P, Thaivalappil A, Cao K
Aging (Albany NY) 2020 Mar 18;12(6):5195-5208. doi: 10.18632/aging.102941. PMID: 32186522Free PMC Article
Pérez-Estrada JR, Hernández-García D, Leyva-Castro F, Ramos-León J, Cuevas-Benítez O, Díaz-Muñoz M, Castro-Obregón S, Ramírez-Solís R, García C, Covarrubias L
Free Radic Biol Med 2019 May 1;135:102-115. Epub 2019 Feb 25 doi: 10.1016/j.freeradbiomed.2019.02.016. PMID: 30818059
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Prognosis

Wang Q, Ni J, Zhang X, Li Y, Xuan D, Zhang J
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Clinical prediction guides

Ogino N, Nagaoka K, Tomizuka K, Matsuura-Harada Y, Eitoku M, Suganuma N, Ogino K
Food Chem Toxicol 2021 Oct;156:112509. Epub 2021 Aug 11 doi: 10.1016/j.fct.2021.112509. PMID: 34390818
Mao X, Bharti P, Thaivalappil A, Cao K
Aging (Albany NY) 2020 Mar 18;12(6):5195-5208. doi: 10.18632/aging.102941. PMID: 32186522Free PMC Article
Pérez-Estrada JR, Hernández-García D, Leyva-Castro F, Ramos-León J, Cuevas-Benítez O, Díaz-Muñoz M, Castro-Obregón S, Ramírez-Solís R, García C, Covarrubias L
Free Radic Biol Med 2019 May 1;135:102-115. Epub 2019 Feb 25 doi: 10.1016/j.freeradbiomed.2019.02.016. PMID: 30818059
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