Acute Intermittent Porphyria: A Rare Inborn Error of Heme Metabolism
نویسندگان
چکیده
منابع مشابه
Feigning Acute Intermittent Porphyria
Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning this illness has not been reported in the English language literature to date. Here, we report on a patient who presented to the hospital with...
متن کاملAcute intermittent porphyria after gastroplasty.
A 28-year-old female underwent gastroplasty for obesity in an uneventful procedure. This was followed within five days by persistent abdominal pain associated with weakness that progressed to generalized flaccid quadriparesis. She developed respiratory distress, and required intubation. Cerebrospinal fluid (CSF) revealed a normal cell count and elevated total protein. Her folate and vitamin B12...
متن کاملSelective screening of 650 high risk Iranian patients for detection of inborn error of metabolism
Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...
متن کاملAcute Intermittent Porphyria: A Diagnostic Challenge
Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral inta...
متن کاملVariant acute intermittent porphyria in a child.
A child who was grossly malnourished and who showed increased excretion of porphyrin and porphyrin precursor had normal activity of erythrocyte porphobilinogen deaminase (EC 4.3.1.8) and leukocyte protoporphyrinogen oxidase (EC 1.3.3.4). Clinical symptoms, coincident with the excretion of rose-colored urine, were consistent with the diagnosis of an acute porphyria. The disease resolved spontane...
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ژورنال
عنوان ژورنال: International Journal of Current Microbiology and Applied Sciences
سال: 2016
ISSN: 2319-7692,2319-7706
DOI: 10.20546/ijcmas.2016.503.038