Results 1 to 10 of about 5,001 (177)

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

Metabolic engineering of Corynebacterium glutamicum for enhanced 5-aminolevulinic acid production via precise porphobilinogen synthase activity modulation [PDF]

Applied and Environmental Microbiology
5-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, Caizhi Wei, Fanglan Ge, Jiao Li, Wei Li, XinLan Huang, Yao Ren   +6 more
doaj   +2 more sources

Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening [PDF]

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria (AHP) is a heme metabolism disorder characterized by acute abdominal pain episodes, with diagnostic delays and misdiagnosis due to heterogeneous presentations and symptom overlap with other diseases. Timely diagnosis is
Gulustan Musayeva, Esra İşat, Mehmet Yıldız, Mehmet Şerif Cansever, Serdal Uğurlu, Dilek Uludağ Alkaya, Sezgin Şahin, Kenan Barut, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek, Özgür Kasapçopur, Tanyel Zubarioglu   +11 more
doaj   +2 more sources

Rat Porphobilinogen Deaminase Gene: A Pseudogene-Free Internal Standard for Laser-Assisted Cell Picking

BioTechniques, 1999
Analysis of gene expression and its transcriptional regulation requires a reliable access to target mRNA. However, mRNA extractions from homogenized tissue are limited because only average data are obtained, and cell-specific expression may not be ...
L. Fink, U. Stahl, L. Ermert, W. Kummer, W. Seeger, R.M. Bohle   +5 more
doaj   +1 more source

Porphyric encephalopathy in a 15-year-old girl: A case report

SAGE Open Medical Case Reports
A 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, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +1 more source

Hepatocyte Transplantation Ameliorates the Metabolic Abnormality in a Mouse Model of Acute Intermittent Porphyria

Cell Transplantation, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by insufficient porphobilinogen deaminase (PBGD) activity. When hepatic heme synthesis is induced, porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate, which ...
Zhaohui Yin, Staffan Wahlin M.D., Ph.D., Ewa C. S. Ellis, Pauline Harper, Bo-Göran Ericzon, Greg Nowak   +5 more
doaj   +1 more source

Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy

Case Reports in Neurology, 2019
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP).
Mohammed Alqwaifly, Vera Bril, Dubravka Dodig   +2 more
doaj   +1 more source

A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort

Journal of the Formosan Medical Association
Background/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms.
Ming-Jen Lee, Hung-Chou Kuo, Lin-Na Chou, Marianne T. Sweetser, Jiaan-Der Wang   +4 more
doaj   +1 more source

Differential diagnosis of acute abdominal pain – acute intermittent porphyria [PDF]

Medicinski Glasnik, 2011
Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme.
Mislav Klobučić, Duška Šklebar, Renata Ivanac, Dragica Vrabec Matković, Anita Jug-Klobučić, Ivan Šklebar   +5 more
doaj  

Porphyria Presenting with Psychotic Symptoms and Developmental Regression: A Diagnostic Dilemma

Annals of Indian Psychiatry
We report a case of a 12-year-old boy who presented with acute onset of psychotic symptoms and later developed developmental regression and repetitive motor behavior.
Sruthi Pradeep Pillai, Kathleen Anne Mathew, Arya Jith   +2 more
doaj   +1 more source