Try the Free App:
Prime PubMed app for iOS iPhone iPad
Prime PubMed app for Android
Prime PubMed is provided
free to individuals by:
Unbound Medicine.
(Acute intermittent porphyria)
2,346 results
  • AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. [Practice Guideline]
    Gastroenterology. 2023 Jan 13 [Online ahead of print]Wang B, Bonkovsky HL, … Balwani M
  • The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase. Acute intermittent porphyria is the most common type of AHP, with an estimated prevalence of patients with symptoms of approximately 1 in 100,000. The maj…
  • Transcriptomic study in explanted liver from a patient with acute intermittent porphyria. [Case Reports]
    JIMD Rep. 2023 Jan; 64(1):10-16.To-Figueras J, Titos E, … Colmenero J
  • Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme-synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme-precursors and acute neurological attacks. We report a 36-years-old female with AIP with a long-term history of severe, disabling, recurrent attacks, who under…
  • Clinical features of Japanese patients with acute hepatic porphyria. [Journal Article]
    JIMD Rep. 2023 Jan; 64(1):71-78.Horie Y, Yasuoka Y, Adachi T
  • Acute hepatic porphyria (AHP) is a family of rare genetic diseases of heme biosynthesis characterized by severe neurovisceral attacks. The clinical characteristics of patients with AHP as well as the prevalence of AHP in Japan are not well understood. The objectives of this study were to describe clinical characteristics of AHP at time of diagnosis in Japanese patients and to estimate the prevale…
  • Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria. [Review]
    Int J Mol Sci. 2022 Dec 20; 24(1)Solares I, Jericó D, … Fontanellas A
  • Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). The estimated clinical penetrance for AIP is extremely low (<1%), therefore it is likely that other factors may play an import…
  • [Acute hepatic porphyrias]. [Review]
    Med Klin Intensivmed Notfmed. 2023 Feb; 118(1):21-29.Sayk F, Grasshoff L
  • Acute porphyrias are caused by rare hereditary disorders of hepatic heme biosynthesis. Episodes of accumulating neurotoxic metabolites lead to multisystemic symptoms such as visceral pain, autonomic dysregulation, neurocognitive impairment, hyponatremia, and occasionally motor paralysis. In addition to protracted non-emergency courses, acute life-threatening crises can occur, often triggered by i…
  • Porphyria: a case report. [Case Reports]
    J Med Case Rep. 2022 Dec 28; 16(1):490.Baidya S, Kandel P, … Sharma VK
  • CONCLUSIONS: This case highlights the baffling amalgamation of symptoms that simulate common diseases of concern yet are buried in the realm of porphyric disorders. Porphyria can be diagnosed using simple screening tools and timely treatment can diminish serious consequences.
  • Mortality in Pedigrees with Acute Intermittent Porphyria. [Journal Article]
    Life (Basel). 2022 Dec 08; 12(12)Neeleman R, Musters K, … Langendonk J
  • High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in pedigrees with HMBS gene variants that cause AIP. We collected data on the lifespan of individuals in Dutch AIP pedigrees and performed analyses…
  • A Medical Conundrum in a Surgical Setting: Lessons Learned From an Atypical Case of Hyponatremia. [Case Reports]
    Cureus. 2022 Nov; 14(11):e31061.Kapoor A, Senra F, … Deore MM
  • In the world of medicine and specifically endocrinology, hyponatremia is one of the commonest electrolyte abnormalities that result in a varied spectrum of presentations. Patients can incur symptoms ranging from lethargy, light-headedness, and confusion to much more severe symptoms such as vomiting, abdominal pain, deterioration in consciousness, and, in critical cases, even seizures. In elderly …
  • Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report. [Case Reports]
    Arch Acad Emerg Med. 2022; 10(1):e74.Abed E, Saeed OM, … Ahmed MG
  • Porphyria is a challenging metabolic disease due to its heterogeneous presentation symptoms and its difficult diagnosis. Many affected individuals can complain of recurrent neuro-visceral attacks per year, some of which may be persistent and life-threatening, which is confusing if there is no established diagnosis. Although the motor manifestations, autonomic changes and seizure are highly sugges…
  • Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand. [Case Reports]
    Am J Case Rep. 2022 Nov 04; 23:e937695.Sriprakoon V, Ittagornpunth C, … Rojnueangnit K
  • BACKGROUND Acute intermittent porphyria (AIP) is a rare genetic disease caused by the deficiency of porphobilinogen deaminase enzyme in the heme synthesis pathway. AIP is passed by autosomal dominant inheritance. Heterozygous pathogenic variants in hydroxymethylbilane synthase (HMBS) are associated with AIP. Multisystemic manifestations of acute neurovisceral features exist, which are quite chall…
  • Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. [Review]
    J Cancer Res Clin Oncol. 2022 Oct 16 [Online ahead of print]Haverkamp T, Bronisch O, … Petrides PE
  • CONCLUSIONS: Biallelic inactivation of HMBS or protoporphyrinogen-oxidase (PPOX), another enzyme of porphyrin biosynthesis, has been observed in patients with acute porphyrias and liver tumors. We could confirm this in our patient with HCC with a mutation in HMBS but not in the one with CCA. Since 5-ALA can be converted into carcinogenic substances such as 4,5-dioxovaleric acid (DOVA) or 3,6-dihydropyrazine-2,5-dipropanoic acid (= cyclic dimerization product of 5-ALA), local production of these metabolites in hepatic areas with complete loss of HMBS activity may contribute to liver carcinogenesis.
New Search Next