Results 11 to 20 of about 5,120 (161)

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

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

Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria? [PDF]

Clin Genet
We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD‐related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.
Dotto PG, de Azevedo Vasconccellos MR, da Silva Franco JF, Gomes CP, Pesquero JB.   +4 more
europepmc   +2 more sources

Porphyria cutanea tarda: An uncommon condition in a patient on chronic hemodialysis

APIK Journal of Internal Medicine, 2023
Patients with chronic kidney disease can have many dermatological manifestations. One of the very rare conditions is porphyria cutanea tarda (PCT), which manifests with hyperpigmentation of skin and photosensitivity along with painful bullae in sun ...
Yedabettu Janardhana Anupama, Yabagodu Ramavakoda Parameshwara   +1 more
doaj   +1 more source

Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring [PDF]

Journal of Community Hospital Internal Medicine Perspectives, 2016
Porphyria cutanea tarda (PCT) is characterized by decreased uroporphyrinogen decarboxylase activity in hepatocytes, uroporphyrin I and heptacarboxyl porphyrin III accumulation, photosensitivity dermatitis, and increased storage iron.
James C. Barton, Corwin Q. Edwards
doaj   +1 more source

Hepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells. [PDF]

PLoS ONE, 2018
Porphyria cutanea tarda (PCT), the most common of the human porphyrias, arises from a deficiency of uroporphyrinogen decarboxylase. Studies have shown a high prevalence of hepatitis C virus (HCV) infection in patients with PCT.
Takafumi Nakano, Kyoji Moriya, Kazuhiko Koike, Toshiharu Horie   +3 more
doaj   +1 more source

Dark/Light Treatments Followed by γ-Irradiation Increase the Frequency of Leaf-Color Mutants in Cymbidium

Plants, 2020
Radiation randomly induces chromosomal mutations in plants. However, it was recently found that the frequency of flower-color mutants could be specifically increased by upregulating anthocyanin pathway gene expression before radiation treatments.
Sang Hoon Kim, Se Won Kim, Jaihyunk Ryu, Si-Yong Kang, Byoung-Cheorl Kang, Jin-Baek Kim   +5 more
doaj   +1 more source

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions

Journal of Nepal Health Research Council, 2019
Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation ...
Niraj Parajuli, Harendra Kumar Jha, Marcel F Jonkman   +2 more
doaj   +1 more source

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria [PDF]

, 1992
A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion
Bourgeois, F. (Francine), Grandchamp, B. (Bernard), Nordmann, Y. (Yves), Rooij, F.W.M. (Felix) de, Siersema, P.D. (Peter), Verneuil1, H. (Hubert) de, Wilson, J.H.P. (Paul)   +6 more
core   +1 more source

The effect of desferrioxamine on iron metabolism and lipid peroxidation in hepatocytes of C57BL/10 mice in experimental uroporphyria [PDF]

, 1993
The effects of the iron chelator desferrioxamine (DFx) on liver iron accumulation, malondialdehyde (MDA) production, porphyrin accumulation and uroporphyrinogen decarboxylase (URO-D; EC 4.1.1.37) activity were investigated over a period of 14 weeks in ...
Eijk, H.G. (Henk) van, Jeu-Jaspars, C.M.H. (Nel) de, Koster, J.F. (Johan), Rooy, F.W.M. (F. W M) de, Siersema, P.D. (Peter), Van Gelder, C.M. (Carin), Voogd, A. (Arthur), Wilson, J.H.P. (Paul)   +7 more
core   +1 more source