Literature DB >> 12557299

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

Runu Dey1, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Michèle Brivet, Bernard Aral, Cécile Marsac.   

Abstract

We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3-binding protein deficiency in a newborn girl. She had a severe encephalopathy, and magnetic resonance imaging of the brain showed large subependymal cysts and no basal ganglia lesions. She died 35 days after birth. We detected a novel homozygous deletion (620delC) in the PDX1 gene, which encodes for the E3BP subunit of the pyruvate dehydrogenase complex.

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Year:  2003        PMID： 12557299     DOI： 10.1002/ana.10478

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  7 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.

Authors:  Chad A Brautigam; R Max Wynn; Jacinta L Chuang; Mischa Machius; Diana R Tomchick; David T Chuang
Journal:  Structure       Date:  2006-01-26       Impact factor: 5.006

3.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

Review 4.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

5.  Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Authors:  D G Ramadan; R A Head; A Al-Tawari; Y Habeeb; M Zaki; F Al-Ruqum; G T N Besley; J E Wraith; R M Brown; G K Brown
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

6.  Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.

Authors:  João P Soares-Fernandes; Roseli Teixeira-Gomes; Romeu Cruz; Manuel Ribeiro; Zita Magalhães; Jaime F Rocha; Lara M Leijser
Journal:  Pediatr Radiol       Date:  2008-01-16

7.  miR-26a is Involved in Glycometabolism and Affects Boar Sperm Viability by Targeting PDHX.

Authors:  Wencan Wang; Kai Liang; Yu Chang; Mingxia Ran; Yan Zhang; Malik Ahsan Ali; Dinghui Dai; Izhar Hyder Qazi; Ming Zhang; Guangbin Zhou; Jiandong Yang; Christiana Angel; Changjun Zeng
Journal:  Cells       Date:  2020-01-08       Impact factor: 6.600
  7 in total

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