Results 21 to 30 of about 4,692 (177)
Enigmatic Evolutionary History of Porphobilinogen Deaminase in Eukaryotic Phototrophs
Biology, 2021 In most eukaryotic phototrophs, the entire heme synthesis is localized to the plastid, and enzymes of cyanobacterial origin dominate the pathway.
Miroslav Oborník
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Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Metabolites, 2014 Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur +3 more
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Unraveling Protracted Neuropsychiatric Symptoms in a Patient With Altered Post-Bariatric Pharmacokinetics: A Diagnostic Puzzle. [PDF]
Case Rep PsychiatryObjective 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).
Ali A, Potts CE, May D.
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Journal of Pediatric Critical Care, 2021 Acute intermittent porphyria (AIP) is an inborn error caused due to inherited deficiency of porphobilinogen (PBG) deaminase leading to increased levels of aminolevulinic acid and PBG.
Ravi Sharma +2 more
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Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]
Clin Case RepClinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Harper P, Törnhage CJ, Sardh E.
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PORPHOBILINOGEN DEAMINASE deficiency alters vegetative and reproductive development and causes lesions in Arabidopsis. [PDF]
PLoS ONE, 2013 The Arabidopsis rugosa1 (rug1) mutant has irregularly shaped leaves and reduced growth. In the absence of pathogens, leaves of rug1 plants have spontaneous lesions reminiscent of those seen in lesion-mimic mutants; rug1 plants also express cytological ...
Víctor Quesada +5 more
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Testing for Porphobilinogen in Urine [PDF]
Clinical Chemistry, 2002 Increased porphobilinogen (PBG) in urine is pathognomonic of an attack or “crisis” of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
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Egyptian Journal of Critical Care Medicine, 2020 Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed +2 more
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Hemotórax espontáneo: una forma inusual de presentación de la porfiria intermitente aguda
Biomédica: revista del Instituto Nacional de Salud, 2009 Las porfirias son un grupo de alteraciones metabólicas de la síntesis del hem, de carácter hereditario. Son condiciones relativamente raras, de difícil diagnóstico, pero con una respuesta impresionante al tratamiento y con buen pronóstico, si se ...
Juliana Buitrago, Sandra Viviana Santa
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Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
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