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Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that encode specific proteins

Anwaar
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2022-09-11
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Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that encode specific proteins, The following are the common characteristics of IEM EXCEPT

  1. the majority of conditions are inherited as autosomal recessive
  2. the later the appearance of clinical symptoms,the more severeis the disease
  3. early diagnosis is of paramount importance before irreversible organ damage
  4. the affected infant is normal at birth and becomes symptomatic later on in life
  5. there is a variation in the severity of the phenotype based on the gene mutation
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Anwaar
2022-09-11
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(B). The earlier the appearance of clinical symptoms, the more severe is the diseas

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