title: Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis.
abstract: 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.
authors: Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China; Department of Microbiology, School of Public Health & Tropical Medicine, Southern Medical University, Tonghe, Guangzhou 510515, China.
authors: Qin
authors: Q
authors: Wang
authors: Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China.
authors: Jia
authors: J
authors: Ni
authors: Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China.
authors: Xiong
authors: X
authors: Zhang
authors: Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China.
authors: Yi
authors: Y
authors: Li
authors: Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China.
authors: Dongying
authors: D
authors: Xuan
authors: Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China. Electronic address: jincaizhang@live.cn.
authors: Jincai
authors: J
authors: Zhang
mesh_terms: D020642:Acatalasia / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy*; D000328:Adult; D002648:Child; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D010518:Periodontitis / Q000150:complications*; D011859:Radiography
keywords: Acatalasemia; Catalase; Mutation; Periodontal treatment; Takahara's disease