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Neurology of the acute hepatic porphyrias
Journal of the Neurological Sciences, 2021Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent ...
Oliveira Santos, Miguel +1 more
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Givosiran: A Review in Acute Hepatic Porphyria
Drugs, 2021Givosiran (Givlaari®) is an δ-aminolevulinic acid synthase 1 (ALAS1)-directed small interfering RNA (siRNA) approved for the treatment of acute hepatic porphyria (AHP). In the phase 3 ENVISION trial, givosiran significantly reduced the annualized rate of composite porphyria attacks (i.e.
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The “glucose effect” in acute hepatic porphyrias and in experimental porphyria
Klinische Wochenschrift, 1981The "glucose effect" was investigated in human acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, coproporphyria and porphobilinogen synthase defect porphyria) and in avian liver cells. 8 patients (7 women) with acute abdominal-neurological porphyria syndrome and 3 patients (2 women) in the remission phase were treated with ...
M, Doss, F, Verspohl
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Medizinische Klinik, Intensivmedizin und Notfallmedizin, 2023
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.
Friedhelm, Sayk, Lars, Grasshoff
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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.
Friedhelm, Sayk, Lars, Grasshoff
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1981
The acute hepatic porphyrias are the result of hereditary partial deficiencies of individual enzymes in the pathway of haem biosynthesis. Seven enzymes are known to be involved in the pathway, converting glycine and succinyl CoA first to porphyrin precursors and then to porphyrins and finally to haem. The rate of the process is regulated by the initial
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The acute hepatic porphyrias are the result of hereditary partial deficiencies of individual enzymes in the pathway of haem biosynthesis. Seven enzymes are known to be involved in the pathway, converting glycine and succinyl CoA first to porphyrin precursors and then to porphyrins and finally to haem. The rate of the process is regulated by the initial
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Treatment of acute hepatic porphyria with hematin
Journal of Hepatology, 1988The efficacy of hematin has been evaluated in eight patients with acute intermittent porphyria: six with acute attacks and two with chronic subacute symptoms. Hematin suppressed the chemical signs of porphyria in all patients and the symptoms in those with acute attacks.
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Acute hepatic porphyrias—A guide for hepatologists
HepatologyThe acute hepatic porphyrias (AHPs) are a group of rare, inherited disorders of the heme biosynthesis pathway, usually manifesting with attacks of acute abdominal pain and other neurovisceral symptoms, with or without cutaneous manifestations. AHPs are characterized by the accumulation of porphyrin precursors, porphobilinogen, and/or aminolevulinic ...
Akshata Moghe +2 more
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Novel treatment options for acute hepatic porphyrias
Current Opinion in Gastroenterology, 2021Purpose of review Acute hepatic porphyrias (AHP) are a group of rare diseases that are characterized by episodic acute neurovisceral pain episodes caused by abnormal accumulation of the neurotoxic porphyrin precursor delta-aminolevulinic acid (ALA).
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Unusual Manifestation of Acute Hepatic Porphyria in Pregnancy
Fetal Diagnosis and Therapy, 2006A 22-year-old para I/gravida II developed psychiatric symptoms at 8 weeks of gestation. Subsequently neurological symptoms with seizures developed leading to a status epilepticus with continuing seizures at week 14. Anticonvulsive therapy had little effect in alleviating the seizures and the condition of the patient rapidly deteriorated.
A, Weinzierl, C, Brezinka, K, Engelhardt
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