Disease Information for Metabolic disorders

Ads
Clinical Manifestations
Signs & Symptoms
Anorexia in Children
Episodic vomiting
Vomiting
Vomiting in Children
Weight loss in Children
Acute Motor Weakness
Muscle weakness
Altered mental status Mental status change
Apathy/Indifference
Cognitive defect
Cognitive deficit/mild
Delirium
Delirium/Agitated delirium
Fatigability
Glove/stocking hypesthesia
Idiocy/signs
Impaired judgement/signs
Infant Seizures
Myoclonus/Myoclonic jerks on exam
Seizures
Seizures/Children/recurrent
Stupor/poor reponse to stimulus
Sudden unconsciousness
Knee Pain
Single Joint Pain
Enervated/extreme acute fatigue
Fatigue
Fatigue Tiredness Exhaustion
Listlessness/lassitude
Weakness
Weight Loss
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Metabolic disease
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Bicarbonate, serum (Lab)
Carbon Dioxide Total Content/CO2
Glucose, blood (Lab)
Phosphate Serum (Lab)
Sodium, serum (Lab)
Abnormal Lab Findings - Increased
Glucose, blood (Lab)
Lactic acid/Lactate (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
URINE Gas Chromatography/FA [MCAD] abnormal
Pathology
PATH/Tissue biopsy/Enzyme assay abnormal
Associated Diseases & Rule outs
Rule Outs
Sudden Infant death syndrome/SIDS
Associated Disease & Complications
Atrial flutter
Coma in Children
Convulsions (grand mal)
Developmental neurologic degeneration/child
Hyperglycemia
Hypoglycemia
Hypoglycemia, infantile
Hyponatremia
Hypophosphatemia
Hypouricemia
Korsakoff Psychosis/Alcohol Dementia
Metabolic encephalopathy
Multifocal atrial tachycardia/MAT syndrome
Neonatal Erythroderma
Organic brain syndrome
Peripheral neuropathy
Polyneuritis
Psychosis
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Group/by process (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Definition

Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)

(Edit)

External Links Related to Metabolic disorders
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)
Ads