Publication: Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Singh, Sandip Kumar | |
| dc.contributor.author | Gauchan, Eva | |
| dc.contributor.author | Koirala, Deepak Prasad | |
| dc.contributor.author | Rao, KS | |
| dc.date.accessioned | 2026-03-17T10:42:15Z | |
| dc.date.available | 2026-03-17T10:42:15Z | |
| dc.date.issued | 2015 | |
| dc.description | Sandip Kumar Singh Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara Eva Gauchan Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara Deepak Prasad Koirala Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara KS Rao Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara | |
| dc.description.abstract | Abstract: δ–Aminolevulinic acid dehydratase porphyria is an autosomal recessive disorder of heme synthesis resulting from deficiency of δ-aminolevulinic acid dehydratase (ALAD). Patients present with fatal neurovisceral manifestations and motor neuropathy. Here we report a patient with rapidly progressive flaccid tetraplegia with respiratory and bulbar paralysis. The importance of early diagnosis, prompt treatment and screening of relatives is stressed. | |
| dc.identifier | https://doi.org/10.3126/jnps.v35i3.12509 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/5202 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Doss porphyrias | |
| dc.subject | flaccid tetraplegia | |
| dc.subject | porphobilinogen | |
| dc.subject | aminolevulinic acid | |
| dc.title | Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 282 | |
| oaire.citation.startPage | 280 | |
| relation.isJournalIssueOfPublication | ddb30430-3a07-48b1-8970-c896f031201d | |
| relation.isJournalIssueOfPublication.latestForDiscovery | ddb30430-3a07-48b1-8970-c896f031201d | |
| relation.isJournalOfPublication | 6f9be05c-05a9-4a3e-a5b5-a19a15ab042c |