Inborn errors of metabolism

has 10 synonyms ↓

• Errors of metabolism
• Inborn error of metabolism
• Metabolic defect
• Metabolic disease
• Metabolic diseases
• Metabolic disorder
• Metabolic disorders
• Metabolic disturbance
• Metabolistic disease
• Storage disease
• Suggest another synonym or correct a wrong one

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1. comprise a large class of genetic diseases involving disorders of metabolism

   

   created by factobot on February 11, 2009

2. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products)

   

   created by factobot on February 11, 2009

3. For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver

   resource

   created by factobot on February 11, 2009

4. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds

   

   created by factobot on February 11, 2009

5. are now often referred to as congenital metabolic diseases or inherited metabolic diseases, and these terms are considered synonymous

   

   created by factobot on February 11, 2009

6. coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (1908)

   1857

   created by factobot on February 11, 2009

7. Dozens of congenital metabolic diseases are now detectable by newborn screening tests, especially the expanded testing using mass spectrometry

   newborn screening

   created by factobot on February 11, 2009

8. This is an increasingly common way for the diagnosis to be made and sometimes results in earlier treatment and a better outcome

   newborn screening

   created by factobot on February 11, 2009