Disease Information for Organic acidemias/Metabolic syndromes

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Clinical Manifestations
Signs & Symptoms
Anorexia in Children
Aversion to high protein diet
Infants Sicken on Feeding
Vomiting
Vomiting in Children
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Seizures unresponsive to treatment
Laboratory Tests
Abnormal Lab Findings (Non Measured)
URINE Alkaline
Abnormal Lab Findings (Non Measured)
Hypoketotic hypoglycemia (Lab)
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Decreased
URINE PH
Abnormal Lab Findings - Increased
Ammonia blood (Lab)
Associated Diseases & Rule outs
Rule Outs
Sudden Infant death syndrome/SIDS
Associated Disease & Complications
Acidosis
Coma in Children
Hyperammonemia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Multisystem disease
Process
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Definition

Organic acidemias group of metabolic defects cause hypoglycemia, hyperketonemia, acidemia, some hyperammonemisome examples: isovaleric acidemia, proprioicacidemia,methylmalonic acidemia and glutaric acidemia type I and II.nd 3-methylcrotonyl-CoA carboxylase def whic mimics reye syndrome.

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External Links Related to Organic acidemias/Metabolic syndromes
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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