ICD-10 Diagnosis Code E70.1

Other hyperphenylalaninemias

Diagnosis Code E70.1

ICD-10: E70.1
Short Description: Other hyperphenylalaninemias
Long Description: Other hyperphenylalaninemias
This is the 2017 version of the ICD-10-CM diagnosis code E70.1

Code Classification
  • Endocrine, nutritional and metabolic diseases
    • Metabolic disorders (E70-E88)
      • Disorders of aromatic amino-acid metabolism (E70)

Information for Medical Professionals

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The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.

  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
  • Classical phenylketonuria
  • Dihydropteridine reductase deficiency
  • Disorder of tetrahydrobiopterin metabolism
  • Disorder of tetrahydrobiopterin metabolism
  • Disorder of tetrahydrobiopterin metabolism
  • Disorder of tetrahydrobiopterin metabolism
  • Guanosine triphosphate cyclohydrolase I deficiency
  • Hyperphenylalaninemia
  • Maternal phenylketonuria
  • Persistent hyperphenylalaninemia
  • Persistent hyperphenylalaninemia AND tyrosinemia
  • Pterin-4-carbinolamine dehydratase deficiency
  • Sepiapterin reductase deficiency
  • Tetrahydrobiopterin synthesis defect
  • Transient hyperphenylalaninemia

Information for Patients

Metabolic Disorders

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

  • Acidosis
  • Alkalosis
  • Lactic acid test
  • Metabolic acidosis
  • Metabolic neuropathies
  • Pseudohypoparathyroidism

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Tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.
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