2010 ICD-9-CM Diagnosis Code 270.1
Phenylketonuria (pku)
- group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase.
- any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism.
- Short description: Phenylketonuria - pku.
- ICD-9-CM 270.1 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
- You are viewing the 2010 version of ICD-9-CM 270.1.
- More recent version(s) of ICD-9-CM 270.1: 2011 2012 2013.
270.1 Alternative Terminology
Applies To
Convert 270.1 to ICD-10-CM 
ICD-9-CM Volume 2 Index entries containing back-references to 270.1:
dihydropteridine reductase 
phenylalanine hydroxylase 
