2024 ICD-10-CM Diagnosis Code E74.21

Approximate Synonyms

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

• Classical galactosemia, heterozygous type
• Classical galactosemia, homozygous Duarte-type
• Classical galactosemia, homozygous Negro-type
• Deficiency of galactose mutarotase
• Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
• Deficiency of UTP-hexose-1-phosphate uridylyltransferase
• Deficiency of UTP-hexose-1-phosphate uridylyltransferase
• Deficiency of UTP-hexose-1-phosphate uridylyltransferase
• Disorder of galactose metabolism
• Disorder of galactose metabolism
• Disorder of galactose metabolism
• Disorder of galactose metabolism
• Disorder of galactose metabolism
• Disorder of galactose metabolism
• Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
• Galactose epimerase deficiency
• Galactosemia
• Generalized uridine diphosphate galactose-4-epimerase deficiency
• Perinatal jaundice due to galactosemia

Clinical Information

• Galactokinase Deficiency|GALK Deficiency|Galactosemia Type 2

  an autosomal recessive disorder caused by mutations in the galk1 gene. the disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. its major clinical symptom is the development of cataracts during the first weeks or months of life.

• Galactosemia

  an autosomal recessive inherited metabolic disorder caused by mutations in the gale, galk1, and galt genes. it is characterized by deficiency of the enzymes responsible for the metabolism of galactose. signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.

• Transferase Deficiency Galactosemia|Transferase Deficient Galactosemia|Transferase-deficient Galactosemia

  a disorder characterized by the body's inability to metabolize galactose. this type of galactosemia is caused by germline mutations in the galt gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.

Convert E74.21 to ICD-9-CM

• ICD-9-CM Code: 271.1 - Galactosemia
  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

Carbohydrate 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.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many 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.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

[Learn More in MedlinePlus]

Galactosemia

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.

Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.

Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency).

Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

[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.