Genetic Metabolic Disorder Clinic

The Genetic Metabolic Clinic is a specialized center dedicated to the diagnosis and treatment of inborn errors of metabolism. These disorders are caused by genetic mutations that disrupt normal metabolic processes within the body. With recent advancements in genetic testing technology, it is now possible to accurately diagnose conditions that were once difficult to identify.

At our clinic, when abnormalities are detected through newborn screening, we provide rapid and accurate diagnoses through comprehensive metabolic testing and genetic analysis. Depending on the specific condition, we offer personalized treatment plans that may include coordinated care with other departments, nutritional counseling, dietary management, medication, and enzyme replacement therapy to slow disease progression and support healthy growth and development.

Early diagnosis plays a key role in minimizing long-term complications and disabilities. By understanding the natural course and inheritance patterns of the disease, we provide families with essential information and guidance. Genetic counseling is also available to help patients and their families prepare for potential recurrence and make informed decisions regarding future pregnancies.

The Genetic Metabolic Clinic is committed to long-term follow-up and improving the quality of life for both patients and their families. We will continue to provide expert care and remain a trusted source of hope and support for individuals affected by metabolic disorders.

Each cell in your body has 23 pairs of chromosomes that carry your genetic information, and within each chromosome are nearly 20000 genes. When a disease is caused by an abnormality in the number or structure of chromosomes or genes, it is called a genetic disease.

Newborns have 50-100 new genetic mutations that are different from their parents. Since 2006, there have been dramatic advances in genetic testing, including the availability of next-generation sequencing, and the cost of testing has continued to decrease, making genetic diagnosis of many previously undiagnosed conditions possible.

Genetic and metabolic diseases are caused by abnormalities in genes, and if diagnosed early, the progression of the disease can be prevented by treatment or dietary adjustment depending on the disease, and the course and inheritance can be predicted, so efforts can be made to minimize disability through a multifaceted approach.We can help you make a professional diagnosis through genetic and metabolic tests, deliver correct genetic knowledge through family genetic counseling, and help you establish family planning in a scientific and reasonable way in collaboration with obstetrics and gynecology.

Location: Children's Hospital, 1st floor, 1st Outpatient Center

Doctors

Bae Hyun Woo

Specialties: Pediatric Neurology, Medical Genetics, Genetic Counseling

<Chilgok Hospital Clinic>

•Tuesday, Thursday, Friday (Morning): Pediatric EEG testing and interpretation

•Friday (Afternoon): Rare and Genetic Diseases Clinic (by appointment only)

▲ Children's Hospital: AM Monday, PM Wednesday

Lee Yun Jung

Specialties: Pediatric neurology (neuromuscular diseases, movement disorders, developmental disorders, epilepsy and other seizure disorders, headaches, undiagnosed rare diseases, etc.

<Chilgok Hospital Clinic>

•Monday (Afternoon): 2nd and 4th weeks of the month

<Samdeok Main Clinic>

•Monday (Afternoon): 1st and 3rd weeks of the month

•Tuesday (Morning): National Bio Big Data Project Consultation

● Kyungpook National University Hospital: AM Tuesday, Friday PM Thursday

▲ Children's Hospital: PM Monday

Kwon Soon Hak

Specialties: Pediatric neurology (developmental disorders, epilepsy and other seizure disorders, headaches, rare diseases, etc.)

<Chilgok Hospital Clinic>

•Thursday (Afternoon): Rare Disease Clinic (by appointment only – Chilgok)

•Monday, Wednesday, Friday (Afternoon): Pediatric EEG testing and interpretation

<Samdeok Main Clinic>

•Friday (Morning): Rare Disease Clinic on the 1st Friday of each month (by appointment only)

● Kyungpook National University Hospital: AM Friday

▲ Children's Hospital: AM Wednesday, Friday PM Tuesday, Thursday