Disease Information for Histidinemia

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Clinical Manifestations
Signs & Symptoms
Blond hair patient
Fair complexion/population/blond
Poor weight gain/child
Awkward Uncoordinated Child
Delayed speech/language development
Idiocy/signs
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Delayed speech development/impediment
Growth/development delay
Blue eyed patient/sign
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Established Disease Population
Patient/Histidinemia
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Female
Population/Girl patient
Population/Infant
Population/Infant female
Population/Preschool child/boy
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
URINE Ferric chloride test abnormal
Abnormal Lab Findings - Increased
Alanine, serum (Lab)
Histidine serum (Lab)
URINE Amino acids
URINE Ferric chloride/blue green color urine
URINE Histidine
URINE Imidazole pyruvic acid
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Prenatal enzyme assay/abnormal
Associated Diseases & Rule outs
Rule Outs
Phenylketonuria
Associated Disease & Complications
Developmental neurologic degeneration/child
Growth retardation/failure
Mental retardation
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 12q22-q23
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Histidase enzyme deficiency
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Variant expressions/Subsets (ex)
Treatment
Other Treatments
TX/Low protein diet
TX/Specific diet/avoidance
Definition
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External Links Related to Histidinemia
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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