Catalase deficiency may complicate urate oxidase (rasburicase) therapy.

Patients with low (inherited and acquired) catalase activities who are treated with infusion of uric acid oxidase because they are at risk of tumour lysis syndrome may experience very high concentrations of hydrogen peroxide. They may suffer from methemoglobinaemia and haemolytic anaemia which may be attributed either to deficiency of glucose-6-phosphate dehydrogenase or to other unknown circumstances. Data have not been reported from catalase deficient patients who were treated with uric acid oxidase. It may be hypothesized that their decreased blood catalase could lead to the increased concentration of hydrogen peroxide which may cause haemolysis and formation of methemoglobin. Blood catalase activity should be measured for patients at risk of tumour lysis syndrome prior to uric acid oxidase treatment.

Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis.

BACKGROUND: Acatalasemia is a rare genetic catalase deficiency that is inherited as an autosomal recessive trait. Although usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present (Takahara's disease). In this report, we presented the diagnosis and 15-y periodontal treatments of an acatalasemia patient with Takahara's disease in China. METHODS: To confirm the diagnosis of acatalasemia, intron 4 of the catalase gene was amplified and sequenced. Erythrocyte catalase activity was measured by ultraviolet spectrophotometer. Besides, periodontal treatments and 15y follow-up were performed. RESULTS: Direct sequencing showed a clear splicing mutation of guanine to adenine substitution at the fifth position of intron 4 in the patient. Erythrocyte catalase activity of the patient (5.2MU/l, 4.6%) was 10% lower than the normal range (113.3±16.5MU/l). After 15-y treatments, the periodontal pocket depth ≥4mm and clinical attachment loss reduced to 30% and 3.7±1.2mm. CONCLUSIONS: Based on these findings, a diagnosis of acatalasemia was established. And the periodontal therapies have achieved a stable periodontal status.

[Acatalasemia--Takahara's disease]. / Akatalasämie--Morbus Takahara.

The case of a 30 year old man with acatalasemia is presented. The congenital disorder is charaterized by a lack or major reduction of catalase, an enzyme that catalyzes the decomposition of hydrogen peroxide to oxygen and water. The defect is inherited in an autosomal recessive fashion. Occasionally the defect manifests as progressive oral gangrene or Takahara's, disease.

Aumento de antioxidantes en sangre y de las concentraciones de selenio en pacientes negros con fase activa de vitíligo / Increased in total blood antioxidant status and selenium levels in black patients with active vitiligo

Antecedentes; El estrés oxidativo es un fenómeno importante en la muerte de los melanocitos en el vitiligo. Recientemente se ha encontrado una acumulación de peróxido de hidrógeno (H2O2) y niveles bajos de catalasa en la epidermis de pacientes con vitiligo. Se han visto pocas alteraciones de los antioxidantes en la sangre de pacientes con vitiligo, excepto una elevación del selenio. No se han realizado estudios sobre el estrés oxidativo hasta ahora, en pacientes con un fototipo VI de piel (clasificación de Fitzpatrick). Objetivo: Estudiar el estado antioxidante en la sangre de pacientes negros con vitíligo generalizado activo. Métodos: Se evaluaron el estado antioxidante total Randox, y las concentraciones de selenio, ferritina, transferrina, ceruloplasmina, tocoferol y retinal en muestras de sangre de los pacientes de piel negra de las indias Occidentales Francesas (de Martinica) con lesiones activas recientes de vitíligo y de 8 voluntarios sanos equiparados en edad y sexo. Resultados: El estado antioxidante total de la sangre y las concentraciones de selenio aumentaron significativamente en los pacientes con vitiligo, en comparación con los controles equiparados en sexo y edad (p<0,01 y p<0,02, respectivamente). No se modificaron significativamente las concentraciones en sangre de ferritina, transferrina, ceruloplasmina, retinol y tocoferol. Conclusiones: Este es el primer trabajo sobre el estado antioxidante global en sangre en el vitíligo. El aumento del estado antioxidante total en sangre observado en pacientes negros fue un resultado inesperado que necesita confirmarse y explicarse por otros estudios. El aumento espontáneo de las concentraciones de selenio podría ser interesante, puesto que este elemento ha sido recomendado en el tratamiento del vitíligo (AU)

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