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Disease Information for Folic acid dependency/metabolic defect

Clinical Manifestations
Signs & Symptoms: Chronic Diarrhea in a Child; Diarrhea and Weight Loss
: Burning/sore tongue (glossodynia/glossopyrosis)
: Paresthesias
Clinical Presentation & Variations: Anemia with Low Reticulocyte Count
Disease Progression: Course/Chronic disorder; Course/Chronic only
: Pancytopenia with Normal Marrow
Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Infant
Laboratory Tests
Microbiology & Serology Findings: Reticulocytosis
Abnormal Lab Findings (Non Measured): Enzyme Assay plasma/tissue/fibroblast abnormal; Macrocytic anemia (Lab); RBC Specific Enzyme assay abnormal (Lab)
Abnormal Lab Findings - Decreased: WBC
: Folic acid/Folate (Lab); Hematocrit (Lab); Hemoglobin (Lab); Platelet count (Lab); RBC/Red Blood Count (Lab); Reticulocytes (Lab); WBC/White Blood Cell Count/Leukocytes (Lab)
Abnormal Lab Findings - Increased: Bilirubin, serum (Lab); Fetal hemoglobin (Lab); Homocysteine serum (Lab); MCV/Mean Corpuscular Volume (Lab)
Diagnostic Test Results
Pathology: Bone Marrow/Giant metamyelocytes; Bone Marrow/Megaloblastic/Pathology
Associated Diseases & Rule outs
Rule Outs: Folic acid deficiency anemia; Pernicious anemia
Associated Disease & Complications: Anemia; Atrophic glossitis/Glossitis; Bilirubinemia; Folate deficiency; Folic acid deficiency anemia; Glossitis/tongue inflammation; Hungry marrow syndrome/recovery; Megaloblastic anemia/disease; Pancytopenia; Sensory neuropathy; Thrombocytopenia
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Erythrocyte disorder (ex); CLASS/Hematologic (category)
Pathophysiology: Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Malabsorption folic acid
: Pathophysiology/Deficiency hematologic effect (ex); Pathophysiology/Ineffective erythropoesis; Pathophysiology/Myelodysplasia process
: Pathophysiology/Acquired Neuropathy; Pathophysiology/Hereditary Neuropathy; Pathophysiology/Inherited Biochemical Neuropathy
Process: PROCESS/Deficiency (category); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/Metabolic/storage disorder (category); PROCESS/Water-soluble vitamin deficiencies (ex)
Treatment
Drug Therapy - Indication: RX/Folic/Folinic acid (Leukovorin)
Definition: Be the first to add a definition for Folic acid dependency/metabolic defect
External Links Related to Folic acid dependency/metabolic defect: 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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