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.J Nepal Paediatr Soc 2015;35(3):280-282
Highlights
Porphyrias are rare metabolic diseases resul ng from altered ac vi es of specific enzymes of the heme biosynthe c pathway. δ–Aminolevulinic acid dehydratase porphyria (ADP), some mes termed as Doss porphyria results from a deficiency of δ-aminolevulinic acid dehydratase (ALAD) and is inherited as an autosomal recessive trait
ALAD is the second enzyme in the heme biosynthe c pathway and catalyzes the condensa on of 2 molecules of aminolevulinate acid (ALA) to form a monopyrrole, porphobilinogen (PBG)[1]
Examina on and urinary findings, a clinical diagnosis of porphyria was made and urine was sent for Porphobilinogen (PBG) and ALA (d-aminolevulinic acid)
Summary
Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis. 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. 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
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