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Citrullinemia with an atypical presentation: persistent hiccups: case report.
MedLine Citation:
PMID:  25192536     Owner:  NLM     Status:  Publisher    
We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.
Halil Degirmencioglu; Mehmet Yekta Oncel; Sadik Yurttutan; Sadrettin Ekmen; Serife Suna Oguz; Nurdan Uras; Ugur Dilmen
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Publication Detail:
Journal Detail:
Title:  Archivos argentinos de pediatria     Volume:  112     ISSN:  1668-3501     ISO Abbreviation:  Arch Argent Pediatr     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-9-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372460     Medline TA:  Arch Argent Pediatr     Country:  -    
Other Details:
Languages:  ENG; SPA     Pagination:  e206-e208     Citation Subset:  -    
Vernacular Title:
Citrulinemia de presentación atípica: hipo persistente: a propósito de un caso.
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