Porphyria‐Safe Emergency Management in COVID‐Associated GBS‐Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing [PDF]
Clinical Case ReportsIn 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
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Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long-Term Outcomes-A Case Study. [PDF]
Clin Case RepABSTRACT 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 +7 more
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Lead Poisoning Revealed by Unexplained Abdominal Pain and Anemia in a Young Adult: A Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT Lead poisoning should be considered in patients presenting with unexplained anemia and abdominal pain, even without clear environmental or occupational exposure. Recognizing classic signs such as Burton's line and basophilic stippling enables timely diagnosis and effective chelation therapy.
Eichler J, Albrecht S, Huber LC.
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Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT 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 +5 more
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The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias. [PDF]
Ann Clin Transl NeurolABSTRACT 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.
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Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]
JIMD RepABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J +6 more
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Acute intermittent porphyria: A case report [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana +3 more
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Cells, 2021 This study aims to present the serum metabolite profiles of patients with acute intermittent porphyria (AIP) and identify specific metabolites that could potentially discriminate between AIP, asymptomatic HMBS mutation carriers, and healthy individuals ...
Chia-Ni Lin +4 more
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Acute Intermittent Porphyria (AIP): A Difficult Diagnosis
MAMC Journal of Medical Sciences, 2021 Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis but usually carry a good prognosis, if the condition is picked up early.
Shailata Prisi +2 more
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Neurological manifestations of acute intermittent porphyria: Case series and current review
Apollo Medicine, 2020 Background: Porphyrias are a group of inherited metabolic disorders, resulting from the deficiency of specific enzyme in the hemebiosynthesis. Among these, acute intermittent porphyria (AIP) is the most common type with neuropsychiatric features ...
Rahi Kiran Bhattiprolu, Vijay Sardana
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