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Porphyria neurological

Ronan O'Malley, Ganesh Rao, Penelope Stein, Oliver Bandmann
The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the 'bells and whistles', in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder...
March 14, 2018: Practical Neurology
Chiara Pisciotta, Michael E Shy
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the neuropathy is the sole or primary part of the disorder (Charcot-Marie-Tooth disease, CMT) and those in which the neuropathy is part of a more generalized neurologic or multisystem disorder (e.g., familial amyloid polyneuropathy, neuropathies associated with mitochondrial diseases, with hereditary ataxias, porphyrias). The former is the most common group, with a prevalence of 1 in 2500 people, and this chapter will concentrate on CMT...
2018: Handbook of Clinical Neurology
Silvina Fernanda Ruspini, Johanna Romina Zuccoli, Jimena Verónica Lavandera, Marìa Del Carmen Martínez, Leda María Olivieri, Esther Noemí Gerez, Alcira María Del Carmen Batlle, Ana María Buzaleh
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disease produced by a deficiency of Porphobilinogen deaminase (PBGD). The aim of this work was to evaluate the effects of Isoflurane and Sevoflurane on heme metabolism in a mouse genetic model of AIP to further support our previous proposal for avoiding their use in porphyric patients. A comparative study was performed administering the porphyrinogenic drugs allylisopropylacetamide (AIA), barbital and ethanol, and also between sex and mutation using AIP (PBG-D activity 70% reduced) and T1 (PBG-D activity 50% diminished) mice...
February 21, 2018: Biochimica et Biophysica Acta
Jian Zhang, Yiting Hu, Jimin Zheng, Juncha Gao, Hongtao Hou, Na Liu, Yuzhen Wang
Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism. It has the ability to trigger posterior reversible encephalopathy syndrome (PRES), a rare acute neurologic condition that is characterized by acute neurological symptoms. Pregnancy may induce AIP attacks. The present report describes the case of a pregnant woman with AIP. The patient was treated with heme-arginate during pregnancy and successfully delivered a healthy baby. Following delivery, the patient presented with PRES and experienced generalized seizures...
December 2017: Experimental and Therapeutic Medicine
Beata Starek-Świechowicz, Bogusława Budziszewska, Andrzej Starek
Hexachlorobenzene (HCB) is an organochlorine pesticide widely distributed in the environment. Chronic exposure of humans to HCB leads to a number of effects, such as triggering of porphyria, microsomal enzyme induction, thyroid dysfunctions, neurological symptoms, and immunological disorders. In animals, HCB induced hepatic porphyria, neurotoxic effects, and toxic effects on the thyroid function, reproductive system, and immune system. HCB as a dioxin-like compound and a weak ligand of the aryl hydrocarbon receptor (AhR) is a hormonal disruptor...
December 2017: Pharmacological Reports: PR
Susheel Kumar, Ashish Bhalla, Navneet Sharma, Deba Prasad Dhibar, Savita Kumari, Subhash Varma
INTRODUCTION: Acute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India. MATERIALS AND METHODS: It was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed. RESULTS: Fifteen AIP patients constituted of eight females and seven males were analyzed...
July 2017: Annals of Indian Academy of Neurology
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
Willem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, Francjan J van Spronsen
Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. However, recurrent neurological crises are another main finding in these patients when they are treated with a tyrosine and phenylalanine restricted diet only. This is caused by the accumulation of δ-aminolevulinic acid due to the inhibitory effect of succinylacetone on the enzyme that metabolizes δ-aminolevulinic acid. Due to the biochemical and clinical resemblance of these neurological crises and acute intermittent porphyria, this group of symptoms in HTI patients is mostly called porphyria-like-syndrome...
2017: Advances in Experimental Medicine and Biology
P Olivier, D Van Melkebeke, P-J Honoré, L Defreyne, D Hemelsoet
BACKGROUND AND PURPOSE: Porphyrias are a group of inherited metabolic disorders resulting from a specific deficiency along the pathway of haem biosynthesis. A clinical classification distinguishes acute from non-acute porphyrias considering the occurrence of life-threatening neurovisceral attacks, presenting with abdominal pain, neuropsychiatric disturbance and neuropathy. Vasospasm is a very rare complication that can occur in all major types of acute porphyria. METHODS: We describe a porphyric crisis with vasospasm in a woman with previously undiagnosed acute porphyria...
September 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Alex Gomez-Gomez, Josep Marcos, Paula Aguilera, Jordi To-Figueras, Oscar J Pozo
BACKGROUND: Acute intermittent porphyria (AIP) is a rare metabolic disorder due to a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. This low enzymatic activity may predispose to the appearance of acute neurological attacks. Seminal studies suggested that AIP was associated with changes in tryptophan homeostasis with inconclusive results. Therefore, the aim of this study was to analyze the urinary metabolome of AIP patients focusing on tryptophan metabolism using state-of-the-art technology...
August 15, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
Essam M Imseis, John S Bynon, Chad Thornhill
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area...
March 28, 2017: World Journal of Hepatology
Antonio Fontanellas, Matías A Ávila, Pedro Berraondo
Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme synthesis pathway. The dominant clinical feature is acute neurovisceral attack associated with high production of potentially neurotoxic porphyrin precursors due to increased hepatic heme consumption. Current Standard of Care is based on a down-regulation of hepatic heme synthesis using heme therapy. Recurrent hyper-activation of the hepatic heme synthesis pathway affects about 5% of patients and can be associated with neurological and metabolic manifestations and long-term complications including chronic kidney disease and increased risk of hepatocellular carcinoma...
November 2, 2016: Expert Reviews in Molecular Medicine
Jing Chen-Roetling, Raymond F Regan
BACKGROUND: Injury to cells adjacent to an intracerebral hemorrhage (ICH) is likely mediated at least in part by toxins released from the hematoma that initiate complex and interacting injury cascades. Pharmacotherapies targeting a single toxin or pathway, even if consistently effective in controlled experimental models, have a high likelihood of failure in a variable clinical setting. Nuclear factor erythroid-2 related factor 2 (Nrf2) regulates the expression of heme oxygenase-1 (HO-1) and multiple other proteins with antioxidant and antiinflammatory effects, and may be a target of interest after ICH...
2017: Current Pharmaceutical Design
Katarzyna Osipowicz, Agnieszka Kalinska-Bienias, Cezary Kowalewski, Katarzyna Wozniak
Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end-stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub-epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria-like lesions...
February 2017: International Wound Journal
Urszula Szlendak, Ksenia Bykowska, Agnieszka Lipniacka
Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system...
March 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Ankita D Patil, Niteen D Karnik, Milind Y Nadkar, Vishal A Gupta, Krithika Muralidhara, Suresh Passidhi
Peripheral nervous system involvement occurs in 3-18% patients of systemic lupus erythematosus (SLE) cases. American College of Rheumatology (ACR) includes 19 neuropsychiatric syndromes for diagnosis of SLE divided into neurological syndromes of central, peripheral and autonomic nervous systems along with the psychiatric syndromes. Sensorimotor quadriparesis in a suspected case of SLE could be due to a Guillain Barré (GBS)-like illness, mononeuritis multiplex presenting as plexopathies, an anterior spinal artery syndrome or it can present like an acute transverse myelitis or hypokalemic periodic paralysis related to Sjogren's syndrome with renal tubular acidosis...
November 2015: Journal of the Association of Physicians of India
Sietske H Kevelam, Rochus A Neeleman, Quinten Waisfisz, Edith C H Friesema, Janneke G Langendonk, Marjo S van der Knaap
OBJECTIVE: To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family. METHODS: We analyzed available MRIs and retrospectively reviewed clinical information and laboratory investigations. We performed whole-exome sequencing to find the causal gene variants. RESULTS: We identified 3 family members with a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons...
September 20, 2016: Neurology
Andrew Dagens, Michael James Gilhooley
Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric symptoms. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). PRES is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral oedema, headaches, nausea and seizures...
June 8, 2016: BMJ Case Reports
Geok Huey New, Pei-Yang Hsu, Meng-Hsing Wu
OBJECTIVES: Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment. CASE REPORT: A 35-year-old woman with tubal factor infertility presented to our clinic with persistent low abdominal pain and hyponatremia after transvaginal oocyte retrieval. During admission, she experienced a generalized tonic-clonic seizure attacked following by dark brown color urine...
April 2016: Taiwanese Journal of Obstetrics & Gynecology
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