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758 Possible Causes for Erythropoietic Porphyria, Neuropathy

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[] Porphyric neuropathy should always be considered as a differential diagnosis in a patient with an acute neuropathy, especially in SA.[] Porphyric neuropathy is manifest by symptoms, signs, and cerebrospinal fluid abnormalities resembling acute Guillain-Barré syndrome.[]

  • Acute Hepatic Porphyria

    porphyria E80.1 Porphyria cutanea tarda E80.2 Other and unspecified porphyria E80.20 Unspecified porphyria E80.21 Acute intermittent (hepatic) porphyria E80.3 Defects of[] […] deficiencies, vascularand metabolic disorders, medication-induced neuropathies, and idiopathic conditions.[] 2015/16 ICD-10-CM E80.29 Other porphyria Approximate Synonyms Acute intermittent porphyria Disorder of porphyrin metabolism Erythropoietic protoporphyria Porphyria Porphyria[]

  • Erythropoietic Protoporphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[] Immediately after the operation she developed a severe axonal neuropathy with cranial nerve involvement.[] A more unusual but very serious complication postoperatively is severe motor neuropathy, with few or no known acute available precautions.[]

  • Acute Intermittent Porphyria

    Neuropathy in AIP can have a small-fiber component rather than being solely a large-fiber neuropathy.[] There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria[] The motor neuropathy showed a steady and gradual improvement following the hematin treatment.[]

  • Hereditary Coproporphyria

    Electrophysiologic studies demonstrated a peripheral neuropathy with features of axonal degeneration and demyelination.[] From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[] The pathogenetic mechanism of peripheral nerve lesions in porphyric neuropathy will be discussed finally.[]

  • Erythropoietic Coproporphyria

    Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum. Genet. 53 (1980) 217–221 Google Scholar Doss, M.[] […] deficiencies, vascularand metabolic disorders, medication-induced neuropathies, and idiopathic conditions.[] Molecular genetics of congenital erythropoietic porphyria.[]

  • Variegate Porphyria

    Typical pattern of porphyric neuropathy is predominant motor neuropathy. Sensory predominant is uncommon presentation.[] Called also intermittent acute porphyria. congenital erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating[] Porphyrias are generally divided into two classes: erythropoietic and hepatic.[]

  • Hepatoerythropoietic Porphyria

    neuropathy and Cutaneous photosensitivity that can help you solving undiagnosed cases.[] Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[] […] by chronic cutaneous manifestations, notably extreme mechanical fragility of the skin, particularly areas exposed to the sunlight, and by episodes of abdominal pain and neuropathy[]

  • Erythropoietic Porphyria

    (disorder) Gunther disease Erythropoietic porphyria Congenital erythropoietic porphyria Uroporphyrinogen 3 Synthase Deficiency GC Günther disease PORPHYRIA, CONGENITAL ERYTHROPOIETIC[] Monitor for any developing muscular weakness and neuropathy.[] Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain, vomiting, peripheral neuropathy and mental disturbances[]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    porphyria Histiocytosis-lymphadenopathy plus syndrome Cardiomelic syndrome Stratton Koehler type Methyl mercury antenatal infection Hereditary hemorrhagic telangiectasia[] Neuropathy, edited by Peter O.[] […] hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.[]

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