Ask about this productRelated genes to: HMBS antibody
- Gene:
- HMBS NIH gene
- Name:
- hydroxymethylbilane synthase
- Previous symbol:
- PBGD, UPS, PORC
- Synonyms:
- -
- Chromosome:
- 11q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: HMBS antibody
Related articles to: HMBS antibody
- Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder caused by hydroxymethylbilane synthase (HMBS) deficiency, resulting in the accumulation of neurotoxic porphyrin precursors. Its rarity and overlap with psychiatric, neurological, and gastrointestinal clinical features frequently lead to diagnostic delays and substantial morbidity. Therefore, we report the case of a 19-year-old woman who presented to a UK tertiary hospital with recurrent tonic-clonic seizures and severe episodes of abdominal pain over a four-year period. After initial investigations excluded cardiac and epileptic causes, she was diagnosed with pseudoseizures and referred to a psychiatric facility because no conclusive epileptiform activity was detected on electroencephalography (EEG). Multiple gastrointestinal diagnostic investigations, including gastric emptying studies, were unsuccessful in identifying an underlying cause. Following postoperative deterioration characterized by nausea, vomiting, and seizures, porphyria screening was initiated. Fecal total porphyrins were elevated at 72.3 nmol/g (reference range, 0-49.9 nmol/g), raising strong biochemical suspicion of an acute hepatic porphyria and prompting specialist referral, while plasma and urinary porphyrin levels remained within normal limits. The patient was referred to a specialist porphyria clinic for genetic confirmation and management. This case illustrates the diagnostic complexity of AIP, in which overlapping neurological and psychiatric features can frequently result in misdiagnosis, and demonstrates that fecal porphyrin elevation can provide valuable complementary biochemical evidence when other investigations are inconclusive, particularly when testing is performed outside an acute episode. AIP should therefore be considered in young women with recurrent unexplained seizures and abdominal pain, especially when standard investigations, including urinary aminolevulinic acid (ALA) and porphobilinogen (PBG), are unremarkable, as normal urinary ALA and PBG levels measured outside an acute attack do not exclude AIP. Early metabolic screening, including fecal porphyrin analysis, may prevent years of morbidity and facilitate timely specialist referral. - Source: PubMed
Publication date: 2026/08/20
Rezwan DilshadDhinakharan S R - Optimal dosing of vancomycin in critically ill patients receiving renal replacement therapy (RRT) is uncertain due to high pharmacokinetic variability. We aimed to develop individualised vancomycin dosing recommendations that optimise efficacy while minimising toxicity. - Source: PubMed
Publication date: 2026/08/04
Ulldemolins MartaLipman JeffreyLiu XinAbdul-Aziz Mohd-HafizBaptista João PBilgrami IrmaBitker LaurentBoidin ClementBrinkmann AlexanderCheng VesaChoi GordonCole C LouiseDe Waele Jan JDeans RenaeEastwood Glenn MEscobar LeslieFrey Otto RGarreau RomainGoutelle SylvainGresham RebeccaHernandez-Mitre Maria PatriciaJamal Janattul AinJoynt Gavin MKanji SalmaanKielstein Jan TKluge StefanKönig ChristinaKoulouras Vasilios PLassig-Smith MelissaLaterre Pierre-FrancoisLee AnnaLefrant Jean-YvesLei KatieLeung PatriciaMat-Nor Mohd-BasriMudaliar YuganOstermann MarliesPaul Sanjoy KPeake Sandra LRello JordiRichard Jean-ChristopheRichards BrentRoberts Darren MRoberts Michael SRoehr Anka CRoger ClaireSeoane LeonardoShekar KiranSinnollareddy MahipalSousa EduardoSpring AnnaStarr ThereseStephens DianneTaccone Fabio SilvioThomas JaneTurnidge JohnValkonen MiiaWallis Steven CWilliams TriciaWittebole XavierWright Daniel F BZikou Xanthi TRoberts Jason A - Porphyrias are rare inherited disorders of heme synthesis caused by reduced activity of one of the eight enzymes in the pathway. When early precursors accumulate, acute hepatic porphyrias occur, which present as severe neurovisceral attacks. When later, light-sensitive porphyrins accumulate, they cause cutaneous forms with chronic photosensitivity, blistering and skin fragility. Although these patterns are usually distinct, acute, and cutaneous features may appear together. This may reflect two separate genetic defects, but more often occurs when oxidative stress, such as from iron overload, chronic infection, or drugs, secondarily inhibits the fifth enzyme, uroporphyrinogen decarboxylase. This creates a mixed porphyrin pattern in which the usual distinctions between acute and cutaneous porphyrias are blurred, making diagnosis challenging. - Source: PubMed
Publication date: 2026/07/07
Masemola Kagiso MMasemola Kgaogelo RDintshi MogomotsiPillay Taryn - Iran established its first human milk bank (HMB) in 2016 to address high rates of neonatal mortality and prematurity-related complications. A national network of 19 HMBs was developed using a sustainable model that integrated local technological innovation and religious consensus. By partnering with domestic knowledge-based companies to manufacture automated pasteurizers, the program successfully bypassed international trade sanctions that made imported equipment cost-prohibitive. Furthermore, the program secured official Fatwas from high-ranking Shia authorities and a formal letter of consent from the Urmia Sunni Clergy Council to resolve "milk kinship" concerns across diverse religious regions. By 2024, the network reached an annual collection volume of over 6,785 liters, serving thousands of infants. This sustainable model provides a practical blueprint for other resource-limited and Muslim-majority countries to enhance neonatal outcomes by ensuring equitable access to donor human milk through national coordination and cultural integration. - Source: PubMed
Publication date: 2026/08/29
Hosseini MohammadbagherHosseini SobhanShafi Khalid Iqbal MohammadHeidarzadeh MohammadHabibelahi Abbas - Therapeutic drug monitoring (TDM) and pharmacokinetic studies of beta-lactam antibiotics in critically ill patients aim to define optimal dosing and require accurate measurement of unbound drug concentrations. This study compared the performance of two ultrafiltration devices, Centrifree and Amicon, for measuring unbound concentrations of cefepime, meropenem, flucloxacillin, piperacillin and tazobactam. - Source: PubMed
Publication date: 2026/08/29
Gregoire MatthieuWallis Steven CWilliams Paul GWon HayoungHernández-Mitre María PatriciaAbdul-Aziz Mohd HRoberts Jason A