Action of uroporphyrinogen decarboxylase on uroporphyrinogen III [PDF]
Biochemical Journal, 1991 Jing Luo, C.K. Lim
openalex +4 more sources
Studies on uroporphyrinogen decarboxylase from chicken erythrocytes [PDF]
FEBS Letters, 1969 L.C.San Martín de Viale +4 more
openalex +4 more sources
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.
europepmc +2 more sources
Characterization and crystallization of human uroporphyrinogen decarboxylase [PDF]
Protein Science, 1997 AbstractThe cytosolic enzyme uroporphyrinogen decarboxylase (URO‐D) catalyzes the fifth step in the heme biosynthetic pathway, converting uroporphyrinogen to coproporphyrinogen by decarboxylating the four acetate side chains of the substrate. Recombinant human URO‐D has been expressed in Escherichia coli with a histidine tag and has been purified to ...
John D. Phillips +3 more
openalex +3 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 RepABSTRACT 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 +6 more
europepmc +2 more sources
Decarboxylation of porphyrinogens by rat liver uroporphyrinogen decarboxylase [PDF]
Biochemical Journal, 1979 The decarboxylations of uroporphyrinogens I and III and of heptacarboxylic, hexacarboxylic and pentacarboxylic porphyrinogens III by rat liver uroporphyrinogen decarboxylase were compared, and the results suggest that the removal of the first carboxy group from uroporphyrinogen III is a more rapid step than that from isomer I or the other substrates ...
Andrew G. Smith, Jean E. Francis
openalex +4 more sources
Uroporphyrinogen decarboxylase (UROD) [PDF]
Science-Business eXchange, 2011 openalex +3 more sources
Decarboxylation of uroporphyrinogen III by erythrocyte uroporphyrinogen decarboxylase. Evidence for a random decarboxylation mechanism [PDF]
Biochemical Journal, 1990 The isomeric composition of type-III heptacarboxylic porphyrinogens derived from decarbosylation of uroporphyrinogen III by erythrocyte uroporphyringogen decarboxylase was analysed by h.p.l.c. with electrochemical detection. All four possible isomers were identified, and there were little differences in the proportion of isomers formed by erythrocytes ...
Jing Luo, C.K. Lim
openalex +4 more sources
Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria? [PDF]
Clin GenetWe 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 +4 more
europepmc +2 more sources