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115 Possible Causes for Erythropoietic Porphyria, Myalgia, Red Urine

  • 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[icd10data.com] Possibly or definitely related AEs reported in two or more cases were injection site reactions and myalgia; all of these events were mild.[businesswire.com] Diagnostic methods The observation of urine that is pink or red after exposure to light evokes the diagnosis of the disease.[orpha.net]

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[doi.org] Symptoms may include red, itchy, blistered, painful and swollen skin and bloody (red) urine. The condition may develop during childhood.[betterhealth.vic.gov.au] Red urine that fluoresces in nappies can allow an easy bedside diagnosis. [ 3 ] There is severe photosensitivity.[patient.info]

  • Acute Intermittent Porphyria

    There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria[ncbi.nlm.nih.gov] Her abdominal pain and myalgia subsided on the third day of dialysis. Her lower limb muscle power improved and she became ambulant by the fourth day.[ncbi.nlm.nih.gov] Abstract A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessively elevated levels of[ncbi.nlm.nih.gov]

  • 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.[link.springer.com] urine In contrast to some porphyrias, the skin is not involved Diagnosis Initial diagnosis of AIP is based on clinical findings.[amboss.com] Molecular genetics of congenital erythropoietic porphyria.[ncbi.nlm.nih.gov]

  • Hereditary Coproporphyria

    From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[ncbi.nlm.nih.gov] Neurological manifestations can affect the central nervous system as much as the peripheral nervous system (myalgia, paresis, ascending flaccid paralysis of the limbs, or[orpha.net] urine with positive Watson-Schwartz test.[ncbi.nlm.nih.gov]

  • Hepatoerythropoietic Porphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] […] paralysis Urinary retention Abnormal urinary color Psychotic episodes Hypertensive crisis Elevated urinary delta-aminolevulinic acid Paralytic ileus Micrognathia Focal seizures Myalgia[mendelian.co] Patients exhibit photosensitivity, red urine, hypertrichosis, and characteristic serum and urine porphyrin profiles.[ncbi.nlm.nih.gov]

  • Muckle-Wells Syndrome

    porphyria pophyria charac by SEVERE PHOTOSENSITIVITY sun exposure -- vesicles bullae develop erythrodontia red-stained teeth porphyria charac by photosensitivity vesicle[quizlet.com] Myalgia, arthralgias and distal edema are very common. With age, patients develop eythematous band over the hands as well as digital clubbing.[orpha.net] .  Urinary protein to detect amyloidosis – protein in the urine, without red or white blood cells is the first sign.  Kidney biopsy confirms the presence of amyloid deposits[flipper.diff.org]

  • Myoadenylate Deaminase Deficiency

    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[icd10data.com] A diagnosis of tension myalgia or myofascial-type pain is often considered when no objective findings are seen in the evaluation.[ncbi.nlm.nih.gov] With the breakdown of muscle (rhabdomyolysis) and the release of the red protein Myoglobin, Myoglobinuria may develop, as evidenced by dark-red or red-brown urine.[annalsofneurosciences.org]

  • Hemoglobinuria

    Intracorpuscular defects: Congenital erythropoietic porphyria - autosomal dominant inheritance.[vetstream.com] […] that hemolysis contributes significantly to the anemia, treatment is indicated for the following reasons: (1) patients with chronic hemolysis complain of lethargy, malaise, myalgia[bloodjournal.org] The classic sign of PNH is dark discoloration of the urine due to the presence of haemoglobin and haemosiderin from the breakdown of red blood cells.[enerca.org]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Porphyria Congenital Erythropoietic Porphyria, Mild, Cutaneous-only Congenital Fast Channel Myasthenic Syndrome Congenital Heart Defects Congenital Heart Disease Heterotaxy[sequencing.com] We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia.[ncbi.nlm.nih.gov] With the breakdown of muscle (rhabdomyolysis) and the release of the red protein Myoglobin, Myoglobinuria may develop, as evidenced by dark-red or red-brown urine.[annalsofneurosciences.org]

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