Results 11 to 20 of about 3,597 (170)

Porphyria‐Safe Emergency Management in COVID‐Associated GBS‐Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing [PDF]

Clinical Case Reports
In COVID‐associated acute neuropathy with abdominal pain, seizures, hyponatremia, hypertension, or hepatic involvement, suspected acute intermittent porphyria should prompt both early PBG/ALA testing and immediate porphyria‐safe medication review to ...
Muhammad Abdullah Awan
doaj   +3 more sources

Feigning Acute Intermittent Porphyria [PDF]

Case Reports in Psychiatry, 2014
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
Rania Elkhatib, Modupe Idowu, Gregory S. Brown, Yasmeen M. Jaber, Matthew B. Reid, Cheryl Person   +5 more
doaj   +3 more sources

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]

Journal of Medical Case Reports
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler   +6 more
doaj   +2 more sources

ACUTE INTERMITTENT PORPHYRIA

Pakistan Armed Forces Medical Journal, 2011
Acute intermittent porphyria(AIP) is an autosomal dominant, severe form of metabolic disorder affecting females more than males, due to partial deficiency of the enzyme Porphobilinogen Deaminase(PBGD)1.
Abid Ullah Khan, Hamid Shafiq ., Rehana Yasmeen .   +2 more
doaj   +6 more sources

Acute intermittent porphyria in the puerperium [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2010
Introduction. Acute intermittent porphyria emerges as a result of partial defect of porphobilinogen deaminase and is manifested by repeated episodes of somatic, psychiatric and neurological disorders.
Sparić Radmila, Berisavac Ivana, Arsenijević Ljubica, Berisavac Milica, Dokić Milan, Savić Olivera, Ilić-Mostić Tatjana, Kadija Saša   +7 more
doaj   +3 more sources

Acute intermittent porphyria: a test of clinical acumen

Journal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal   +3 more
doaj   +2 more sources

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long-Term Outcomes-A Case Study. [PDF]

Clin Case Rep
ABSTRACT Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis. Treatment with hemin and givosiran resulted in prevention of attacks and functional recovery, highlighting the importance of
de Araújo Karpejany NRA, do Monte Neto JT, Pereira EM, Carvalho IAF, de Serpa Brandão RMS, da Silva AS, Dos Santos TSB, do Monte SJH.   +7 more
europepmc   +2 more sources

Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]

Clin Case Rep
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Sadeghi P, Ghahvechi Akbari M, Hassani SA, Alimadadi H, Heidari M, Ziaee V.   +5 more
europepmc   +2 more sources

The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias. [PDF]

Ann Clin Transl Neurol
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Pacut P, Cannon J, Dixit N, Fan Q.
europepmc   +2 more sources

Reversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature

European Journal of Case Reports in Internal Medicine, 2022
The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central ...
Attout Hassene, Stephane Guez
doaj   +1 more source