Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency.

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dc.contributor.authorGulati, Sheffalien_US
dc.contributor.authorMenon, Shajien_US
dc.contributor.authorKabra, Madhulikaen_US
dc.contributor.authorKalra, Veenaen_US
dc.date.accessioned2004-07-29en_US
dc.date.accessioned2009-05-30T12:12:22Z
dc.date.available2004-07-29en_US
dc.date.available2009-05-30T12:12:22Z
dc.date.issued2004-07-29en_US
dc.description.abstractOrnithine transcarbamylase (OTC) deficiency is an X-linked disorder and the most common inherited cause of hyperammonemia. Clinical manifestations are more severe in hemizygous males who often present in neonatal period. Heterozygous females may be asymptomatic until juvenile or adulthood. Fluctuating concentration of ammonia, glutamine and other excitotoxic amino acids result in a chronic or episodically recurring encephalopathy. The authors report a heterozygous female with OTC deficiency who presented with recurrent encephalopathy.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. sheffalig@yahoo.comen_US
dc.identifier.citationGulati S, Menon S, Kabra M, Kalra V. Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency. Indian Journal of Pediatrics. 2004 Jul; 71(7): 645-7en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/80451
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshBrain Diseases, Metabolic --diet therapyen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDiet, Protein-Restricteden_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshHyperammonemia --diet therapyen_US
dc.subject.meshOrnithine Carbamoyltransferase Deficiency Disease --complicationsen_US
dc.titleIntermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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