Free Diagnosis Codes Lookup > 2008 > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 > Disorders of amino-acid transport and metabolism 270.* >
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.
Also applicable to/known as
Hyperphenylalaninemia
ICD-9-CM Volume 2 Index Entries That Refer To 270.1
Deficiency, deficient
dihydropteridine reductase 270.1
phenylalanine hydroxylase 270.1
Disease, diseased - see also Syndrome
Følling's (phenylketonuria) 270.1
Disorder - see also Disease
amino acid (metabolic) (see also Disturbance, metabolism, amino acid) 270.9
2008 ICD-9-CM Diagnosis Code 270.1
270.1