ICD10 code of Galactosemia and ICD9 code

The primary medical classification code for Galactosemia is E74.2 under the ICD-10-CM system, which specifically denotes disorders of galactose metabolism. In the older ICD-9-CM system, Galactosemia is classified under the code 271.1.

What is the clinical definition of Galactosemia?

Galactosemia is a rare, life-threatening genetic metabolic disorder that prevents the body from breaking down galactose, a simple sugar found in dairy products and many other foods. If an infant with Galactosemia is fed breast milk or standard infant formula, galactose builds up to toxic levels in the blood, leading to severe damage to the liver, brain, kidneys, and eyes. Because Galactosemia is a medical emergency in neonates, early detection through newborn screening is vital to initiate a galactose-restricted diet immediately, which can prevent the most severe, life-altering complications.

How is Galactosemia diagnosed and classified?

Diagnosis of Galactosemia is typically confirmed through newborn screening programs that measure the activity of the enzyme GALT (galactose-1-phosphate uridylyltransferase) in a blood spot sample. When a screening result is positive, clinicians perform confirmatory testing, including enzyme assays and molecular genetic testing to identify specific mutations in the GALT gene. Within the medical community, there are three primary types of Galactosemia, distinguished by the specific enzyme deficiency involved:

• Classic Galactosemia (Type I): The most severe form, caused by a deficiency of GALT.


• Galactokinase Deficiency (Type II): Primarily associated with the development of cataracts.


• Galactose Epimerase Deficiency (Type III): A rarer form that can range from mild to severe clinical presentations.

Is Galactosemia hereditary?

Yes, Galactosemia follows an autosomal recessive inheritance pattern. This means that for a child to be born with the condition, they must inherit one non-working copy of the causative gene from each parent. Parents who are carriers of the GALT mutation typically show no symptoms themselves, but there is a 25% chance of having a child with Galactosemia with each pregnancy. Genetic counseling is strongly recommended for families who have received a diagnosis to understand recurrence risks and carrier status for other family members.

Living with Galactosemia: Support and Long-term Management

While dietary restriction of galactose is the cornerstone of management, many individuals with Galactosemia continue to face long-term challenges, including speech delays, learning disabilities, and premature ovarian insufficiency in females. At DiseaseMaps.org, we have seen 142 people with Galactosemia join our community to share their experiences and coping strategies. Connecting with others who understand the day-to-day management of this condition can be an invaluable resource for both patients and caregivers navigating the complexities of a lifelong restricted diet.

Next steps

• Consult with a metabolic specialist or a pediatric geneticist to ensure a comprehensive management plan is in place.


• Work with a registered dietitian who specializes in metabolic disorders to safely navigate nutritional requirements.


• Join the DiseaseMaps.org community to connect with other families and individuals living with Galactosemia.


• Stay informed about clinical trials and research updates via the NIH Genetic and Rare Diseases Information Center (GARD).

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Galactosemia


• Orphanet: Classic Galactosemia (ORPHA:352)


• OMIM (Online Mendelian Inheritance in Man): Galactose-1-Phosphate Uridylyltransferase Deficiency (#230400)


• Galactosemia Foundation: Clinical Guidelines and Patient Resources