A man without a history of porphyric attacks developed a subacute motor neuropathy at the age of 63. At the same time the first signs of a myeloproliferative disorder were found. He had a homozygous deficiency of erythrocyte delta-aminolevulinic acid dehydratase (ALA-D) with autosomal recessive inheritance. Treatment with parenteral glucose and with hematin had a beneficial influence on the plasma ALA levels. The finding of a motor neuropathy with increased plasma levels of ALA but not of porphobilinogen (PBG) supports the potential role of ALA in the pathogenesis of porphyric neuropathy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/0022-510x(90)90115-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Recovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report.
Eur Rev Med Pharmacol Sci
April 2024
Department of Biomedical, Metabolic and Neural Science, Neurology Unit, Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy.
Background: We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated with givosiran, a small-interfering RNA that drastically decreases delta-aminolevulinic acid production and reduces porphyric attacks' recurrence.
Case Report: A 12-year-old male patient with refractory acute intermittent porphyria and severe porphyric neuropathy was followed prospectively for 12 months after givosiran initiation (subcutaneous, 2.5 mg/kg monthly).
Reversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature.
Eur J Case Rep Intern Med
September 2022
Internal Medicine Unit, Pellegrin Teaching Hospital, Bordeaux, France.
Unlabelled: The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central nervous system dysfunction. In rare cases, patients with acute intermittent porphyria have presented with cerebral infarction, suggested to be due to vasospasm in cerebral arteries.
View Article and Find Full Text PDFAcute porphyrias - A neurological perspective.
Brain Behav
November 2021
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology, Berlin, Germany.
Article Synopsis
- Acute hepatic porphyrias (AHP) are rare genetic disorders that lead to severe neurological symptoms due to deficiencies in enzymes involved in heme production, with four main types identified.
- Diagnosis is often delayed or mistaken because of their varying presentations and similarities to conditions like Guillain-Barré syndrome and autoimmune encephalitis.
- Key indicators for suspecting AHP include neurological symptoms appearing after severe abdominal pain, reddish urine, hyponatremia, photodermatitis, and signs of encephalopathy or neuropathy, as illustrated by three case studies from a neurological intensive care unit.
Porphyric neuropathy.
Muscle Nerve
August 2021
Section on Gastroenterology & Hepatology, Department of Internal Medicine, Wake Forest Baptist health, Winston Salem, North Carolina, USA.
Acute hepatic porphyrias are inherited metabolic disorders that may present with polyneuropathy, which if not diagnosed early can lead to quadriparesis, respiratory weakness, and death. Porphyric neuropathy is an acute to subacute motor predominant axonal neuropathy with a predilection for the upper extremities and usually preceded by a predominantly parasympathetic autonomic neuropathy. The rapid progression and associated dysautonomia mimic Guillain-Barré syndrome but are distinguished by the absence of cerebrospinal fluid albuminocytologic dissociation, progression beyond 4 wk, and associated abdominal pain.
View Article and Find Full Text PDFHEME: a neglected player in nociception?
Neurosci Biobehav Rev
May 2021
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Turin, Italy.
Article Synopsis
- Current pain management methods are not very effective, despite better understanding of how pain works.* -
- New research highlights the role of heme metabolism in pain insensitivity and its connections to various pain conditions.* -
- The review aims to clarify how heme influences pain pathways and relates to sensory neuron function and associated mental health issues like anxiety and depression.*
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!