Pediatric metabolic disorders are genetic conditions that disrupt the function of essential proteins in the body. These proteins play vital roles as enzymes, catalysts, and transporters that regulate daily metabolic processes. When a genetic abnormality occurs, a child’s metabolism becomes impaired, leading to various health symptoms.
According to Dr. Novitria Dwinanda, Sp.A (K), a pediatrician specializing in nutrition and metabolic diseases at Mandaya Royal Hospital Puri, metabolic disorders in children are often difficult to detect because the symptoms are highly varied and resemble common illnesses.
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Symptoms of Metabolic Disorders in Children to Watch For
Pediatric metabolic disorders are known as “a thousand faces” because their symptoms are extremely diverse. Here are signs that parents should pay attention to:
1. Growth disorders
- Abnormal weight gain (too slow or too rapid)
- Height not aligned with growth charts
- Obesity without a clear cause
2. Neurological developmental issues
- Delayed motor milestones (unable to sit or walk at expected age)
- Regression of skills (a child who could talk or walk becomes unable)
- Recurrent seizures
- Significant decline in academic performance
3. Recurrent infections
- Frequent fevers without a clear cause
- Persistent infections such as pneumonia or tuberculosis
- Recurrent sepsis since infancy
4. Digestive problems
- Chronic diarrhea and vomiting from birth
- Poor response to standard treatments
- Failure to thrive despite adequate nutrition
5. Other organ-related issues
- Prolonged jaundice in newborns
- Abdominal distension
- Heart rhythm abnormalities
- Vision problems
When Should Parents Be Concerned?
Dr. Novitria highlights several “red flags” that should prompt parents to seek further medical evaluation:
- Unclear diagnosis: Visiting multiple doctors without receiving a definite diagnosis
- Ineffective treatment: Symptoms persist despite various treatments
- Progressive symptoms: The child’s condition worsens over time
- Family history: Consanguineous marriage or similar cases within the family
- Pregnancy history: Recurrent miscarriages or unexplained infant deaths in the family
Diagnosing Pediatric Metabolic Disorders
A definitive diagnosis requires genetic testing such as genome sequencing. Doctors in Indonesia typically use a combination of:
- Clinical symptom analysis
- Basic laboratory tests (liver function, ammonia, lactate, electrolytes)
- Supporting tests (brain MRI, X-ray, biopsy)
- Specific enzyme tests
In developed countries, routine metabolic screening is performed on newborns for early detection. Unfortunately, this has not yet become a national standard in Indonesia, leading to delayed diagnosis.
Management of Pediatric Metabolic Disorders
Treatment Principles
Dr. Novitria explains that treatment focuses on:
- Substrate restriction: Limiting substances the child cannot metabolize. For example, in glucose-galactose malabsorption, the child must avoid foods containing glucose and galactose.
- Enzyme replacement therapy: Providing replacement enzymes to prevent toxic buildup
- Multidisciplinary care: Involving various specialists (neurology, hepatology, medical rehabilitation)
Early diagnosis leads to better outcomes. Children who receive timely and appropriate treatment can grow and develop normally.
Dr. Novitria shares the case of a 5–6-month-old patient weighing only 3 kg with chronic diarrhea and vomiting since birth. After being diagnosed with glucose-galactose malabsorption and following a special diet, the child is now 4 years old, growing normally, attending kindergarten, and has normal intelligence.
“Every child deserves to grow, develop, and play just like any other child,” Dr. Novitria emphasizes.
Tips for Parents
1. Know your child’s developmental milestones
Learn the normal developmental stages and seek medical advice if your child is not meeting age-appropriate milestones.
2. Be critical and proactive
- Don’t stop searching for answers when a diagnosis is unclear
- Ask your doctor: “What is the exact diagnosis? What should I do next?”
- If advised to wait, ask for concrete guidance on stimulation or further evaluations
3. Maintain open communication with your doctor
Share any challenges or limitations you face in carrying out the prescribed therapy. Doctors can help find solutions suited to your family’s needs.
4. Focus on quality of life
The primary goals are to save the child’s life and improve their quality of life, while also considering the family’s overall well-being.
Genetic Counseling: Planning for the Future
When a metabolic disorder diagnosis is confirmed, Dr. Novitria always provides genetic counseling to explain:
- The cause of the disease
- Prognosis for the next 5–10 years
- Treatment options
- Recurrence risk for future children
- Risk of transmission to grandchildren
Parental genetic testing may be needed if the diagnosis is uncertain or if the parents are planning another pregnancy.
Research shows that in developing countries, diagnosing metabolic disorders can take 3–5 years. However, with persistence and strong collaboration between parents and doctors, diagnosis can be achieved much sooner.
“Always stay critical and aware of your child’s condition. If you suspect something, find out for sure—there is always an underlying cause. We cannot provide the right treatment without knowing the diagnosis. Don’t give up on finding answers,” says Dr. Novitria.
About Dr. Novitria Dwinanda, Sp.A (K)
Dr. Novitria Dwinanda, Sp.A (K) is a pediatrician specializing in nutrition and metabolic diseases at Mandaya Royal Hospital Puri. Her expertise includes:
- Diagnosis and management of pediatric metabolic disorders
- Genetic counseling
- Specialized nutrition management for children with metabolic conditions
- Management of developmental and growth disorders
Dr. Novitria is available at Mandaya Royal Hospital Puri on:
- Tuesday: 17.00 – 20.00 WIB
- Thursday: 17.00 – 20.00 WIB
To make your visit easier, use the WhatsApp Chat feature, Book Appointment, or the Care Dokter app (available on Google Play and the App Store) to check queue numbers and access complete information.
Reference: Hello Moma Podcast with Dr. Novitria Dwinanda, Sp.A (K) – Mandaya Royal Hospital Puri
