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inborn errors of metabolism

Wikipedia Summary

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products)...
Related Codes (5)
Code
Description
Billable
Details
E25.0Congenital adrenogenital disorders associated with enzyme deficiency
E71.120Methylmalonic acidemia
E71.42Carnitine deficiency due to inborn errors of metabolism
P09.1Abnormal findings on neonatal screening for inborn errors of metabolism
E76.03Scheie's syndrome

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