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30 Possible Causes for Erythropoietic Porphyria, Hematocrit Decreased, Myalgia

  • 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] Four patients were assessed as having AEs possibly related to study drug, including injection site reaction (mild and self-limiting), hypersensitivity, myalgia, headache,[dddmag.com]

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[doi.org] What is congenital erythropoietic porphyria?[britishskinfoundation.org.uk] Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov]

  • Acute Intermittent Porphyria

    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] There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria[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]

  • Lead Poisoning

    In the described case of the death of a 41-year-old-man, no enzymatic disturbances characteristic of congenital erythropoietic porphyria were ascertained, and furthermore,[ncbi.nlm.nih.gov] […] construction workers and to decreased birth weight and increased odds of clinically relevant hypertension ( Gonzalez-Cossio et al. 1997 ; Hu et al. 1996 ).[doi.org] Linear regression analysis showed log of BLL was significantly associated with abdominal pain, myalgia and anorexia.[ncbi.nlm.nih.gov]

  • Primary Hyperoxaluria

    Lipase Deficiency Congenital Erythropoietic Porphyria; UROS mutation: c.331G A Glycogen Storage Disease Type IV Mucopolysaccharidosis Type I (MPS I) Mucopolysaccharidosis[optimal-selection.com] […] joints, the retina, and the central nervous system, causing complications in the form of cardiomyopathy, disturbances in the cardiac conduction system, retinopathy, severe myalgia[symptoma.com] ; HMBS mutation: c.844delGAG Acute Intermittent Porphyria; HMBS mutation c.107_110delACAG Acute Intermittent Porphyria; HMBS mutation c.826-1G A Chylomicronemia, Lipoprotein[optimal-selection.com]

  • 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] Chronic transfusions (every 2-4 weeks) with a target hematocrit greater than 35% can suppress erythropoiesis and decrease porphyrin production, which reduces porphyrin levels[ncbi.nlm.nih.gov] From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[link.springer.com]

  • Anemia

    Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. Am. J. Hum. Genet. 91, 109–121 (2012). 104.[dx.doi.org] Throughout fetal life, erythrocytes decrease in size and increase in number: hematocrit increases from 30% to 40% during the second trimester to 50% to 63% at term.[pedsinreview.aappublications.org] Empiric use of steroids prior to retreatment may diminish minor reactions that occur the next day. 62 Patients may also experience self-limited arthralgia, myalgias, and/or[bloodjournal.org]

  • Sideroblastic Anemia

    Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder, results from the markedly deficient activity of uroporphyrinogen III synthase [UROS] (also known[ommbid.mhmedical.com] Blood 2017 129:2710; doi: A 3-month-old boy presented with decreased appetite, fatigue, and a nosebleed.[bloodjournal.org] […] features; onset: childhood-adulthood Slender build Facial muscle weakness; exertional dyspnea; obstructive sleep apnea; myopathy w/weakness, atrophy, exercise intolerance, myalgia[ncbi.nlm.nih.gov]

  • Autosomal Recessive Osteopetrosis Type 7

    BORNHOLM DISEASE / DEFINITION bornholm disease otherwise known as the devil's grip, the epidemic myalgia, or the epidemic pleurodynia, the epidemic transient diaphragmatic[signssymptoms.org] , acute intermittent porphyria Porphyria, erythropoietic protoporphyria Potocki-Lupski syndrome Duplication 17p11.2 syndrome Prader-Willi syndrome PWS Primary adrenal insufficiency[socialstyrelsen.se] Fevers 39–40 C myalgia, headaches with flares. Sensorineural hearing loss.[autoinflammatory-search.org]

  • Iron Deficiency

    Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation[ncbi.nlm.nih.gov] ; normal unless infection is present Cells are iron deficient; as hematocrit falls below 30%, hypochromic microcytic cells appear, followed by a decrease in MCV White blood[medical-dictionary.thefreedictionary.com] […] causes a more rapid therapeutic response than oral iron does but can cause adverse effects, most commonly allergic reactions or infusion reactions (eg, fever, arthralgias, myalgias[merckmanuals.com]

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