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From , former About.com Guide

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ENCYCLOPEDIA INDEX
Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Methylmalonic acidemia
Overview Symptoms Treatment Prevention
Symptoms:
  • vomiting
  • dehydration
  • lethargy
  • seizures
  • failure-to-thrive
  • recurrent infections with Candida sp.
  • progressive encephalopathy
  • developmental delays
Signs and tests:
Tests:
  • serum electrolytes
  • blood gas for acidosis
  • serum ammonia levels (see ammonia - test)
  • serum and urine tests for amino acids and organic acids
  • serum methylmalonic acid levels
  • enzyme analysis of fibroblasts for the specific enzyme abnormality
  • CBC for neutropenia, anemia, and thrombocytopenia
  • CT scan or MRI of the brain following a seizure
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