Results 11 to 20 of about 8,719 (208)

Lead Poisoning Revealed by Unexplained Abdominal Pain and Anemia in a Young Adult: A Diagnostic Challenge. [PDF]

Clin Case Rep
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.
Eichler J, Albrecht S, Huber LC.
europepmc   +2 more sources

The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias. [PDF]

Ann Clin Transl Neurol
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 ...
Pacut P, Cannon J, Dixit N, Fan Q.
europepmc   +2 more sources

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]

JIMD Rep
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,
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model. [PDF]

J Intern Med
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 ...
Di Pierro E, Solares I, Jericó D, Castelbón FJ, Solera JT, Riera-Mestre A, Barreda-Sánchez M, Poci C, Nicolli A, Urigo F, Sampedro A, de Salamanca RE, Marcacci M, Ávila MA, Harper P, Fanlo-Maresma MG, Guillén-Navarro E, Graziadei G, Wenzel A, Beck BB, Ventura P, Morales-Conejo M, Fontanellas A.   +22 more
europepmc   +2 more sources

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

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias

Diagnostics, 2021
Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
doaj   +1 more source

The Synthesis of a Pyrazol Analogon of Porphobilinogen with the Help of the Mukaiyama Aldol Reaction

CHIMIA, 2003
The synthesis of a pyrazol analogon of porphobilinogen is described. The Mukaiyama crossed aldol reaction is the key step of our approach.
André Chaperon, Hugo Bertschy, Anne-Laurence Franz-Schrumpf, Bertrand Hugelet, Antonia Neels, Helen Stoeckli-Evans, Reinhard Neier   +6 more
doaj   +1 more source

Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]

, 2011
Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE, Deacon AC, Mauzerall D, Pierach CA, Schreiber WE   +4 more
core   +1 more source

Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism

iScience, 2021
Summary: Porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis, catalyzes the sequential coupling of four porphobilinogen (PBG) molecules into a heme precursor. Mutations in PBGD are associated with acute intermittent porphyria (AIP)
Helene J. Bustad, Juha P. Kallio, Mikko Laitaoja, Karen Toska, Inari Kursula, Aurora Martinez, Janne Jänis   +6 more
doaj   +1 more source

Only complete rejoining of DNA strand breaks after UVC allows K562 cell proliferation and DMSO induction of erythropoiesis [PDF]

, 2008
DNA strand breaks are early intermediates of the repair of UVC-induced DNA damage, however, since they severely impair cellular activities, their presence should be limited in time.
AVALLONE, BICE, FORESTI, MAGDA
core   +1 more source