2014 ICD-9-CM Diagnosis Code 270.1
- Short description: Phenylketonuria - pku.
- ICD-9-CM 270.1 will be replaced by an equivalent ICD-10-CM code (or codes) when the United States transitions from ICD-9-CM to ICD-10-CM on October 1, 2015.
- ICD-9-CM 270.1 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
- Classical phenylketonuria
- Dihydropteridine reductase deficiency
- Guanosine triphosphate cyclohydrolase I deficiency
- Maternal phenylketonuria
- Persistent hyperphenylalaninemia
- Persistent hyperphenylalaninemia AND tyrosinemia
- Phenylketonuria, maternal
- Pterin-4-carbinolamine dehydratase deficiency
- Transient hyperphenylalaninemia
- A disorder characterized by the body's inability to break down and utilize the essential amino acid phenylalanine.
- A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine
- A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase or less frequently by reduced activity of dihydropteridine reductase (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema; and demyelination in the central nervous system. (from Adams et al., Principles of Neurology, 6th ed, p952).
- An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, pku can easily be found in newborns, and treatment is a diet low in phenylalanine.
- 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.
- Group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase.
- Phenylketonuria (pku) is a genetic disorder in which the body can't process part of a protein called phenylalanine (phe). Phe is in almost all foods. If the phe level gets too high, it can damage the brain and cause severe mental retardation. All babies born in United States Hospitals must now have a screening test for pku. This makes it easier to diagnose and treat the problem early. The best treatment for pku is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.babies who get on this special diet soon after they are born develop normally. Many have no symptoms of pku. It is important that they stay on the diet for the rest of their lives. nih: national institute of child health and human development
Convert to ICD-10-CM
converts approximately to:
- 2014 ICD-10-CM E70.0 Classical phenylketonuria