Literature DB >> 27164344

Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report.

Pinar Gencpinar1, Dilek Çavuşoğlu2, Ömer Özbeyler3, Özge Ö Kaya4, Figen Baydan5, Nihal Olgac Dundar2.   

Abstract

Panton-Valentine leukocidin (PVL) is an exotoxin that is produced by many strains of Staphylococcus aureus, and an important virulence factor. A PVL-positive S. aureus infection leads to rapid and severe infections of soft tissue and necrotizing pneumonia in healthy adolescents, and has a high mortality. This case report included a 12-year-old male patient who admitted for fever, respiratory distress and hip pain and was identified with necrotizing pneumonia with septic pulmonary embolism, psoas abscess, cellulitis and osteomyelitis. The PVL positive methicillin-sensitive S. aureus (MSSA) was isolated in the patient blood culture. Sociedad Argentina de Pediatría.

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Keywords:  AMT gene mutation; Hiccups; Hypotonia; Infant; Seizure

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Year:  2016        PMID: 27164344     DOI: 10.5546/aap.2016.eng.e142

Source DB:  PubMed          Journal:  Arch Argent Pediatr        ISSN: 0325-0075            Impact factor:   0.635


  1 in total

1.  [Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family].

Authors:  Zhi-Jie Gao; Qian Jiang; Qian Chen; Ke-Ming Xu
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-03
  1 in total

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