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Neuropediatrics 2012; 43(04): 201-208
DOI: 10.1055/s-0032-1315431
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

Laura Libernini
1   Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy
,
Chiara Lupis
1   Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy
,
Mario Mastrangelo
1   Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy
,
Rosalba Carrozzo
2   Division of Molecular Medicine, Bambino Gesù Children Hospital, Rome, Italy
,
Filippo Maria Santorelli
3   Department of Molecular Medicine for Neurodegenerative Disease, Stella Maris Foundation, Pisa, Italy
,
Maurizio Inghilleri
4   Department of Neurology, La Sapienza-University of Rome, Rome, Italy
,
Vincenzo Leuzzi
1   Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy
› Author Affiliations
Further Information

Publication History

07 July 2011

24 April 2012

Publication Date:
22 May 2012 (online)

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Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215–13_215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes.

Keywords

children - mitochondrial diseases - mitochondrial neurogastrointestinal encephalomyopathy - thymidine phosphorylase
 

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