Disease Information for Transcobalamin II deficiency

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Clinical Manifestations
Signs & Symptoms
Mental Deficiency Child
Clinical Presentation & Variations
Anemia with Low Reticulocyte Count
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)
Macrocytic anemia (Lab)
Macrocytosis/smear (Lab)
Abnormal Lab Findings - Decreased
Vitamin B12, serum (Lab)
Abnormal Lab Findings - Increased
MCV/Mean Corpuscular Volume (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Hypovitaminosis B12
Megaloblastic anemia/disease
Mental retardation
Transcobalamine deficiency II
Vitamin B12 deficiency
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/B12 Intrinsic Factor receptors dys
Pathophysiology/Ileal absorption impaired
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Cobalamin binding protein, Cobalamin Binding Proteins, deficiency, Proteins Cobalamin Binding, Proteins Vitamin B12 Binding, Transcobalamin, Transcobalamin (substance), transcobalamins, Vitamin B 12 Binding Proteins, VITAMIN B A 12 BINDING PROTEINS, Vitamin B12 binding protein, Vitamin B12 Binding Proteins, Synonym/Imerslund Graesbeck Syndrome
Treatment
Drug Therapy - Indication
RX/Hydroxcobalamine (Vitamin B12)
Definition
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External Links Related to Transcobalamin II deficiency
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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