Results 31 to 40 of about 3,705 (210)

Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP) [PDF]

Molecular Medicine, 1999
Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (EC 4.3.1.8; HMB-synthase). This disease is characterized by acute, life-threatening neurologic attacks that are precipitated by various drugs, hormones, and other factors.
Constanza Solis, Idoia Lopez-Echaniz, David Sefarty-Graneda, Kenneth H. Astrin, Robert J. Desnick   +4 more
openalex   +3 more sources

Adolescents may accurately self-collect pharyngeal and rectal clinical specimens for the detection of Chlamydia trachomatis and Neisseria gonorrhoeae infection.

PLoS ONE, 2021
BackgroundThe COVID-19 pandemic illuminated the benefits of telemedicine. Self-collected specimens are a promising alternative to clinician-collected specimens when in-person testing is not feasible.
Gabriella Vavala, Cameron Goldbeck, Claire C Bristow, Chrysovalantis Stafylis, Paul C Adamson, Dianna Polanco, Manuel A Ocasio, Jasmine Fournier, Adriana Romero-Espinoza, Risa Flynn, Robert Bolan, M Isabel Fernandez, Dallas Swendeman, W Scott Comulada, Sung-Jae Lee, Mary Jane Rotheram-Borus, Jeffrey D Klausner, Adolescent Medicine Trials Network (ATN) CARES Team   +17 more
doaj   +1 more source

Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]

Eur J Neurol
ABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Alhammad RM, Almutawa RA, Ali AS, Alkhawajah NM, Albulaihe HM, Osman AM, AlSheef MA, Alsayed AA, Sulaiman RA, Alharbi KJ.   +9 more
europepmc   +2 more sources

Modification of hydroxymethylbilane synthase (porphobilinogen deaminase) by pyridoxal 5′-phosphate. Demonstration of an essential lysine residue [PDF]

Biochemical Journal, 1984
When hydroxymethylbilane synthase (porphobilinogen deaminase) from Euglena gracilis is incubated with pyridoxal 5′-phosphate at pH 7.0 and 0 degree C, it rapidly loses part of its activity. The proportion of activity that remains decreases as the concentration of the modifier increases up to approx.
Graham Hart, Finian J. Leeper, Alan R. Battersby   +2 more
openalex   +4 more sources

Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding [PDF]

Biochemical Journal, 1991
The role of conserved arginine residues in hydroxymethylbilane synthase was investigated by replacing these residues in the enzyme from Escherichia coli with leucine residues by using site-directed mutagenesis. The kinetic parameters for these mutant enzymes and studies on the formation of intermediate enzyme-substrate complexes indicate that several ...
M Lander, Andrew R. Pitt, Peter R. Alefounder, D Bardy, Chris Abell, Alan R. Battersby   +5 more
openalex   +5 more sources

A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria

Clinical Case Reports, 2023
Key Clinical Message The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and ...
Jose Malagon‐Rangel, Jose Gabriel Solis, Luis Fernando Zavala‐Jonguitud, Martín Roberto Basile‐Alvarez, Andrea Malagon‐Liceaga   +4 more
doaj   +1 more source

Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]

Clin Case Rep
Clinically 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.
europepmc   +2 more sources

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

Frontiers in Genetics, 2023
Background: Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP).
Yi Ren, Shuang Li, Jia-Jia Lei, Ru Li, Bai-Xue Dong, Jing Yang   +5 more
doaj   +1 more source

Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography [PDF]

Biochemical Journal, 1983
A high-performance-liquid-chromatographic method is developed for the simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase activity in erythrocytes. Effective separation of uroporphyrin I and III isomers allows the accurate quantification of individual isomers and the total uroporphyrin concentration.
D. J. Wright, C.K. Lim
openalex   +4 more sources

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
doaj   +1 more source