2024 ICD-10-CM Diagnosis Code E72.23

Citrullinemia

ICD-10-CM Code:
E72.23
ICD-10 Code for:
Citrullinemia
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Chronic
Code Navigator:

Code Classification

  • Endocrine, nutritional and metabolic diseases
    (E00–E89)
    • Metabolic disorders
      (E70-E88)
      • Other disorders of amino-acid metabolism
        (E72)

E72.23 is a billable diagnosis code used to specify a medical diagnosis of citrullinemia. The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024.

Approximate Synonyms

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

  • Citrin deficiency
  • Citrullinemia
  • Citrullinemia type I
  • Citrullinemia type II
  • Citrullinemia, neonatal type
  • Citrullinemia, subacute type
  • Citrullinuria
  • Deficiency of argininosuccinate synthase
  • Late-onset citrullinemia type I
  • Neonatal metabolic acidemia

Clinical Classification

Clinical Information

  • Citrullinemia

    a group of diseases related to a deficiency of the enzyme argininosuccinate synthase which causes an elevation of serum levels of citrulline. in neonates, clinical manifestations include lethargy, hypotonia, and seizures. milder forms also occur. childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ataxia, behavioral changes, and dysarthria. (from menkes, textbook of child neurology, 5th ed, p49)
  • Citrullinemia

    a rare autosomal recessive inherited disorder caused by mutations in the ass1 and slc25a13 genes. it is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.
  • Citrullinemia Type I|Argininosuccinate Synthetase Deficiency|CTLN1

    an autosomal recessive sub-type of citrullinemia caused by mutation(s) in the ass1 gene, encoding argininosuccinate synthetase.
  • Citrullinemia Type II|CTLN2

    an autosomal recessive sub-type of citrullinemia caused by mutation(s) in the slc25a13 gene, encoding calcium-binding mitochondrial carrier protein aralar2.
  • SLC25A13 wt Allele|ARALAR-Related Gene 2|ARALAR2|CITRIN|CTLN2|Citrullinemia Type II Gene|NICCD|Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13 Gene|Solute Carrier Family 25 (Citrin), Member 13 Gene|Solute Carrier Family 25 Member 13 wt Allele|Solute Carrier Family 25, Member 13 (Citrin) Gene

    human slc25a13 wild-type allele is located in the vicinity of 7q21.3 and is approximately 202 kb in length. this allele, which encodes electrogenic aspartate/glutamate antiporter slc25a13, mitochondrial protein, plays a role in the malate-aspartate shuttle. loss of function mutations in the gene are associated with citrullinemia type 2.

Index to Diseases and Injuries References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Convert E72.23 to ICD-9-CM

  • ICD-9-CM Code: 270.6 - Dis urea cycle metabol
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education


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.


[Learn More in MedlinePlus]

Citrullinemia

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Some affected individuals develop serious liver problems. The health problems associated with type I citrullinemia are life-threatening in many cases. Less commonly, a milder form of type I citrullinemia can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, blind spots (scotomas), problems with balance and muscle coordination (ataxia), and lethargy. Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder.

Type II citrullinemia chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. Affected individuals often have specific food preferences, preferring protein-rich and fatty foods and avoiding carbohydrate-rich foods. The signs and symptoms of this disorder typically appear during adulthood (adult-onset) and can be triggered by certain medications, infections, surgery, and alcohol intake. These signs and symptoms can be life-threatening in people with adult-onset type II citrullinemia.

Adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. In many cases, the signs and symptoms of NICCD go away within a year. In rare cases, affected individuals develop other signs and symptoms in early childhood after seeming to recover from NICCD, including delayed growth, extreme tiredness (fatigue), specific food preferences (mentioned above), and abnormal amounts of fats (lipids) in the blood (dyslipidemia). This condition is known as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD). Years or even decades later, some people with NICCD or FTTDCD develop the features of adult-onset type II citrullinemia.


[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.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.