Lead Poisoning Revealed by Unexplained Abdominal Pain and Anemia in a Young Adult: A Diagnostic Challenge [PDF]
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT 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.
Jennifer Eichler +2 more
wiley +2 more sources
Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge [PDF]
Clinical Case Reports, Volume 14, Issue 5, May 2026.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
Payman Sadeghi +5 more
wiley +2 more sources
The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias [PDF]
Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 639-640, March 2026.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 ...
Peter Pacut +3 more
wiley +2 more sources
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]
Journal of Medical Case ReportsBackground Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht +6 more
doaj +2 more sources
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT 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 avoid worsening neurovisceral attacks before diagnostic confirmation.
Muhammad Abdullah Awan
wiley +2 more sources
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report [PDF]
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT 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,
Jeremy Clark +6 more
wiley +2 more sources
Metabolic engineering of Corynebacterium glutamicum for enhanced 5-aminolevulinic acid production via precise porphobilinogen synthase activity modulation [PDF]
Applied and Environmental Microbiology5-Aminolevulinic acid (5-ALA) is a valuable precursor for pharmaceuticals and agriculture, but its microbial production is limited by tight coupling to essential heme biosynthesis.
Hongyan Zhang +6 more
doaj +2 more sources
New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model [PDF]
Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro +22 more
wiley +2 more sources
Unraveling Protracted Neuropsychiatric Symptoms in a Patient With Altered Post‐Bariatric Pharmacokinetics: A Diagnostic Puzzle [PDF]
Case Reports in Psychiatry, Volume 2026, Issue 1, 2026.Objective To report a complex case of serotonin toxicity that evolved into a persistent neuropsychiatric syndrome, complicating the differential diagnosis between protracted toxicity, prolonged SSRI discontinuation syndrome, acute hepatic porphyria, and functional neurological disorder (FND).
Akbar Ali +3 more
wiley +2 more sources