Results 1 to 10 of about 8,700 (194)
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
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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
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Porphyric encephalopathy in a 15-year-old girl: A case report [PDF]
SAGE Open Medical Case ReportsA 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati +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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Frontiers in Chemistry, 2022 Early and sensitive detection of δ-aminolevulinic acid (δ-ALA) and porphobilinogen (PBG) is the cornerstone of diagnosis and effective treatment for acute porphyria. However, at present, the quantifying strategies demand multiple solvent extraction steps
Muhammad Ajmal +5 more
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Acute intermittent porphyria in a 23-year-old man: case report
Revista Médica de Minas Gerais, 2023 Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain ...
Tarcísio Silva Borborema +4 more
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Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications
Diagnostics, 2021 Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci +4 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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