Saudi Journal of Anaesthesia, 2011 We report on a patient with acute intermittent porphyria, who received 8 AB0 incompatible units of packed red blood cells in an emergency situation. She never showed any signs of severe intravascular haemolysis.
Burkard Rudlof +3 more
doaj +1 more source
Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature [PDF]
, 2010 Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain.
Brynhildur Tinna Birgisdóttir +4 more
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Folate Deficiency, Porphyria, and Seizures
Pediatric Neurology Briefs, 1993 A 12 year old, learning-disabled boy with epilepsy was admitted to the University of Connecticut Health Center, Farmington, CT because of symptomatic folate deficiency and newly diagnosed acute intermittent porphyria.
J Gordon Millichap
doaj +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Byōseki and pathography: Their commonalities and differences
Psychiatry and Clinical Neurosciences Reports, Volume 4, Issue 2, June 2025.Abstract The German psychiatrist Paul Julius Möbius began to use the term Pathographie in a new sense: a psychiatric biography of a historical figure that focuses on their pathological aspects. Byōseki, which originated from Möbius's Pathographie, refers to a uniquely Japanese practice that explores the relationship between creativity and ...
Shinnosuke Saito
wiley +1 more source
Desensitization in patients with hypersensitivity to haem arginate: A case report
World Allergy Organization Journal, 2019 Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman +3 more
doaj +1 more source
General anaesthesia in acute intermittent porphyria [PDF]
, 2014 Acute intermittent porphyria (AIP) is caused by the deficiency of porphobilinogen deaminase, a haem synthesis enzyme, giving rise to crises characterized by abdominal pain, tachyarrythmias and psychiatric features.
Abela, Glenn Paul, Calleja, Paul
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Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells [PDF]
, 2014 Heme biosynthesis begins in the mitochondrion with the formation of delta-aminolevulinic acid (ALA). In acute intermittent porphyria, hereditary tyrosinemia type I and lead poisoning patients, ALA is accumulated in plasma and in organs, especially the ...
C. Homedan +8 more
core +4 more sources
Long-Term Follow-up of Erythrocyte Porphobilinogen Deaminase Activity in a Patient With Acute Intermittent Porphyria: The Relationship between the Enzyme Activity and Abdominal Pain Attacks [PDF]
, 2007 The relationship between the onset of abdominal pain attack and the urinary levels of δ-aminolevulinic acid, porphobilinogen, uroporphyrin, and the activity of erythrocyte porphobilinogen deaminase was studied on a monthly basis over a four-year period
1242 +7 more
core +1 more source
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
wiley +1 more source