Results 11 to 20 of about 3,148 (150)

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]

JIMD Rep
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]

Eur J Neurol
ABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Alhammad RM, Almutawa RA, Ali AS, Alkhawajah NM, Albulaihe HM, Osman AM, AlSheef MA, Alsayed AA, Sulaiman RA, Alharbi KJ.   +9 more
europepmc   +2 more sources

Acute intermittent porphyria: A case report [PDF]

Vojnosanitetski Pregled, 2021
Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana, Ristanović Aleksandra, Vuković Rade, Veljović Milić   +3 more
doaj   +1 more source

Nonconvulsive status epilepticus secondary to acute porphyria crisis

Epilepsy and Behavior Case Reports, 2019
Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit, Shubhang K. Bhatt, Devika M. Das, Andrew R. Pines, Harn J. Shiue, Brent P. Goodman, Joseph F. Drazkowski, Joseph I. Sirven   +7 more
doaj   +1 more source

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

BMC Research Notes, 2018
Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick   +13 more
doaj   +1 more source

Acute Intermittent Porphyria, Posterior Reversible Encephalopathy Syndrome and Hypertensive Emergency, A Review of The Literature

Egyptian Journal of Critical Care Medicine, 2020
Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed, Mahmoud Abdelnabi, Abdallah Almaghraby   +2 more
doaj   +1 more source

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Anais da Academia Brasileira de Ciências, 2013
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS, RAFAELA R. DE ALBUQUERQUE, MARIA J.R. DORIQUI, GRACIOMAR C. COSTA, ANA PAULA S.A. DOS SANTOS   +4 more
doaj   +1 more source

19-year-old female with abdominal pain [PDF]

Romanian Journal of Neurology, 2013
Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme.
Ioan Buraga, Adrian-Florin Dobrescu
doaj   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source