Dr. Novitria Dwinanda, Sp.A (K), a pediatrician specializing in nutrition and metabolic disorders at Mandaya Royal Hospital Puri, explains that metabolic diseases are genetic conditions caused by a deficiency or dysfunction of certain proteins in the body. These proteins play an essential role as enzymes, catalysts, and transporters that support daily metabolic processes.
When these proteins do not function properly, multiple body systems can be affected. That is why metabolic diseases are often referred to as conditions with “a thousand faces,” as their symptoms are broad and may mimic various other medical problems.
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Symptoms of Metabolic Diseases in Children
The symptoms of metabolic diseases in children vary widely. However, several early signs can be recognized by parents. According to Dr. Novitria, some of the most common symptoms include:
1. Growth Disorders
- Poor weight gain for age
- Suboptimal height growth
- Excessive weight gain (obesity)
Abnormal growth patterns are often one of the earliest indications that a child’s metabolism is not functioning as it should.
2. Neurological Symptoms or Nervous System Problems
Metabolic disorders can affect the brain and nervous system, causing issues such as:
- Developmental delays (e.g., delayed sitting, standing, or walking milestones)
- Developmental regression, such as losing previously acquired abilities—like declining school performance or losing writing skills
- Seizures without a clear cause
3. Recurrent Infections
Some children appear to be sick frequently since birth, showing signs such as:
- Repeated infections
- Recurrent pneumonia or tuberculosis
- Persistent fever
- Sepsis that does not improve
Often, these children are thought to be simply “prone to illness,” when in fact the root cause may be a metabolic disorder.
4. Liver Problems (Hepatology Symptoms)
Some children exhibit signs that resemble ordinary jaundice, but much more prolonged:
- Persistent jaundice since birth
- Enlarged abdomen
- Worsening jaundice over time
These symptoms may indicate a metabolic disorder affecting liver function.
5. Heart Problems
Some children also show:
- Abnormal heart rhythms
- Impaired heart contractions
These symptoms are often not immediately linked to metabolic issues, even though they can be key indicators.
The Role of Family History in Metabolic Diseases
In addition to evaluating the child’s symptoms, family history also plays a crucial role. Dr. Novitria advises parents to consider:
- Whether the parents are blood relatives (consanguinity)
- Family members with similar symptoms
- Unexplained infant or child deaths
- Premature births
- Low birth weight (LBW)
- Recurrent miscarriages
If several of these factors are present within a family, the possibility of a metabolic disorder should be considered early.
When Should You Take Your Child for an Evaluation?
Because the symptoms are broad and often appear “nonspecific,” many parents do not realize that their child may have a metabolic disorder. Early evaluation with Dr. Novitria Dwinanda, Sp.A (K) at Mandaya Royal Hospital Puri can help identify and manage metabolic diseases sooner, preventing severe complications.
Clinic Schedule of Dr. Novitria at Mandaya Royal Hospital Puri
Dr. Novitria Dwinanda, Sp.A (K) is available at Mandaya Royal Hospital Puri on:
- Tuesday: 17:00 – 20:00 WIB
- Thursday: 17:00 – 20:00 WIB
To simplify your visit, use the WhatsApp Chat feature, Book Appointment, or the Care Dokter application—available on Google Play and the App Store—to check queue numbers, schedule visits, and access complete information.
