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Disease Information for Coproporphyria, hereditary

Clinical Manifestations
Signs & Symptoms: Recurrent Abdominal Pain
: Infant Seizures; Personality change; Seizures; Seizures/Children/recurrent
: URINE Color Red
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured): Tests more abnormal with attacks (Lab)
: URINE Watson-Schwartz Ehrlich
Abnormal Lab Findings - Increased: Aminolevulinic acid/Delta-aminolevulinic acid level (Lab); Coproporphyrin (Lab); Coproporphyrin RBC (Lab)
: URINE 17-Hydroxycorticosteroids; URINE Aminolevulinic acid/delta; URINE Coproporphyrin; URINE Deltalevulinic acid; URINE Porphobilinogen; URINE Porphyrins
: STOOL Coproporphyrin III; STOOL Coproporphyrins; STOOL Protoporphyrin
Associated Diseases & Rule outs
Associated Disease & Complications: Convulsions (grand mal); Coproporphyria, hereditary; Hallucinations; Motor neuropathy; Photosensitivity dermatitis; Phototoxicity
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Hematologic (category)
Pathophysiology: Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Hepatic porphyria
: Pathophysiology/Coproporphyrinogen oxidase enzyme def
Process: PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/Metabolic porphyrin disorder (ex); PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym: Berger Goldberg syndrome, COPROPORPHYRIA HEREDITARY, Coproporphyria, hereditary, COPROPORPHYRINOGEN OXIDASE DEFIC, Coproporphyrinogen Oxidase Deficiency, Coproporphyrinogn oxid def, CPO Coproporphyrinogen oxidase deficiency, CPO Coproporphyrinogn oxid def, CPO deficiency, CPRO deficiency, Deficiency, Coproporphyrinogen Oxidase, HCP Hereditary coproporphyria, HCP Hereditary coproporphyria, Hereditary Coproporphyria, Hereditary coproporphyria (disorder), hereditary coproporphyria porphyria, Porphyria hepatica II, Synonym/Porphyria hepatica
Definition: Be the first to add a definition for Coproporphyria, hereditary
External Links Related to Coproporphyria, hereditary: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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