Version 2024

2024 ICD-10-CM Diagnosis Code E71.51

Disorders of peroxisome biogenesis

ICD-10-CM Code:
E71.51
ICD-10 Code for:
Disorders of peroxisome biogenesis
Is Billable?
Not Valid for Submission
Code Navigator:

Code Classification

  • Endocrine, nutritional and metabolic diseases
    (E00–E89)
    • Metabolic disorders
      (E70-E88)
      • Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
        (E71)

E71.51 is a non-specific and non-billable diagnosis code code, consider using a code with a higher level of specificity for a diagnosis of disorders of peroxisome biogenesis. The code is not specific and is NOT valid for the year 2024 for the submission of HIPAA-covered transactions. Category or Header define the heading of a category of codes that may be further subdivided by the use of 4th, 5th, 6th or 7th characters.

Specific Coding Applicable to Disorders of peroxisome biogenesis

Non-specific codes like E71.51 require more digits to indicate the appropriate level of specificity. Consider using any of the following ICD-10-CM codes with a higher level of specificity when coding for disorders of peroxisome biogenesis:

  • Use E71.510 for Zellweger syndrome - BILLABLE CODE

  • Use E71.511 for Neonatal adrenoleukodystrophy - BILLABLE CODE

  • Use E71.518 for Other disorders of peroxisome biogenesis - BILLABLE CODE

Clinical Information

  • Peroxisomal Disorders

    a heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional peroxisomes. peroxisomal enzymatic abnormalities may be single or multiple. biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. diseases in this category include zellweger syndrome; infantile refsum disease; rhizomelic chondrodysplasia (chondrodysplasia punctata, rhizomelic); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and adrenoleukodystrophy (x-linked). neurologic dysfunction is a prominent feature of most peroxisomal disorders.

Patient Education


Leukodystrophies

What are leukodystrophies?

Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes:

  • Nerve fibers, also called axons, which connect your nerve cells
  • Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.

When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.

There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.

What causes leukodystrophies?

Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.

What are the symptoms of leukodystrophies?

The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:

  • Muscle tone
  • balance and mobility
  • Walking
  • Speech
  • Ability to eat
  • Vision
  • Hearing
  • Behavior

There can also be other symptoms, such as:

  • Learning disabilities
  • bladder issues
  • Breathing problems
  • Developmental disabilities
  • Muscle control disorders
  • Seizures

How are leukodystrophies diagnosed?

Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis:

  • Physical and neurological exams
  • A medical history, including asking about family history
  • Imaging tests, such as an MRI or CT scan
  • Genetic testing to look for genetic changes that could cause leukodystrophies
  • Lab tests

What are the treatments for leukodystrophies?

There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:

  • Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)
  • Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems
  • Nutritional therapy for eating and swallowing problems
  • Educational and recreational programs

Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.

One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.

NIH: National Institute of Neurological Disorders and Stroke


[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.