ICD-10-CM Code E71.314

Muscle carnitine palmitoyltransferase deficiency

Version 2021 Billable Code

Valid for Submission

E71.314 is a billable code used to specify a medical diagnosis of muscle carnitine palmitoyltransferase deficiency. The code is valid for the fiscal year 2021 for the submission of HIPAA-covered transactions. The ICD-10-CM code E71.314 might also be used to specify conditions or terms like amino acid deficiency, carnitine deficiency, carnitine palmitoyltransferase deficiency, carnitine palmitoyltransferase i deficiency, carnitine palmitoyltransferase ii deficiency, muscle carnitine deficiency, etc

ICD-10:E71.314
Short Description:Muscle carnitine palmitoyltransferase deficiency
Long Description:Muscle carnitine palmitoyltransferase deficiency

Index to Diseases and Injuries

The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E71.314 are found in the index:


Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Amino acid deficiency
  • Carnitine deficiency
  • Carnitine palmitoyltransferase deficiency
  • Carnitine palmitoyltransferase I deficiency
  • Carnitine palmitoyltransferase II deficiency
  • Muscle carnitine deficiency

Convert E71.314 to ICD-9

  • 277.85 - Disorders acid oxidation (Approximate Flag)

Code Classification

  • Endocrine, nutritional and metabolic diseases (E00–E90)
    • Metabolic disorders (E70-E88)
      • Disord of branched-chain amino-acid metab & fatty-acid metab (E71)

Code History

  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016
    (First year ICD-10-CM implemented into the HIPAA code set)
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021

Information for Patients


Lipid Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) 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. If you have a metabolic disorder, something goes wrong with this process.

Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.

These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.


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Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals also have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal. Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months.The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of CPT II deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death.The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes.
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