acatalasemia


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acatalasemia

[¦ā·ka·tə·lə′sē·mē·ə]
(medicine)
Lack of catalase in the blood.
References in periodicals archive ?
Peroxisomal disease Peroxisome biogenesis disorders (PBDs) Zellweger spectrum disorders Zellweger syndrome (ZS) Neonatal adrenoleukodystrophy (NALD) Infantile Refsum disease (IRD) Rhizomelic chondrodysplasia punctata (RCDP) Single-enzyme deficiencies Adrenoleukodystrophy (ALD) Acyl-CoA oxidase deficiency D-Bifunctional protein deficiency 3-Ketoacyl-CoA thiolase deficiency Refsum disease (phytanyl-CoA hydroxylase deficiency), [alpha]-Methylacyl-CoA racemase deficiency Hyperoxaluria type I (alanine glyoxylate aminotransferase deficiency) Mevalonate kinase deficiency Glutaric aciduria 3 (glutaryl-CoA oxidase deficiency) Acatalasemia Table 3.
Las mas conocidas son el sindrome de Zellweger, la adrenonleucodistrofia neonatal, el Refsum infantil, la condrodisplasia rizomelica, la acatalasemia y la hiperoxaluria.
A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.
Hypocatalasemia is the heterozygous state of the acatalasemia gene and is inherited as an autosomal, recessive trait without any characteristic clinical sign.