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Leigh syndrome due to pyruvate carboxylase deficiency

MedGen UID:
419722
Concept ID:
C2931141
Disease or Syndrome
Synonyms: Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
 
OMIM®: 266150

Recent clinical studies

Etiology

Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, Robinson BH, Mitchell GA
Pediatrics 2007 Apr;119(4):722-33. doi: 10.1542/peds.2006-1866. PMID: 17403843

Diagnosis

De Meirleir L
Handb Clin Neurol 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. PMID: 23622387
Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, Robinson BH, Mitchell GA
Pediatrics 2007 Apr;119(4):722-33. doi: 10.1542/peds.2006-1866. PMID: 17403843
Nagai T, Goto Y, Matsuoka T, Sakuta R, Naito E, Kuroda Y, Nonaka I
Pediatr Neurol 1992 Sep-Oct;8(5):328-32. PMID: 1329789
Baumgartner ER, Suormala TM, Wick H, Probst A, Blauenstein U, Bachmann C, Vest M
Pediatr Res 1989 Sep;26(3):260-6. doi: 10.1203/00006450-198909000-00021. PMID: 2587127
Miyabayashi S, Ito T, Narisawa K, Iinuma K, Tada K
Eur J Pediatr 1985 Mar;143(4):278-83. PMID: 2985393

Prognosis

Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, Robinson BH, Mitchell GA
Pediatrics 2007 Apr;119(4):722-33. doi: 10.1542/peds.2006-1866. PMID: 17403843
Baumgartner ER, Suormala TM, Wick H, Probst A, Blauenstein U, Bachmann C, Vest M
Pediatr Res 1989 Sep;26(3):260-6. doi: 10.1203/00006450-198909000-00021. PMID: 2587127
Miyabayashi S, Ito T, Narisawa K, Iinuma K, Tada K
Eur J Pediatr 1985 Mar;143(4):278-83. PMID: 2985393

Clinical prediction guides

Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, Robinson BH, Mitchell GA
Pediatrics 2007 Apr;119(4):722-33. doi: 10.1542/peds.2006-1866. PMID: 17403843

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