This Baby Holds the Mystery of 'Diabetes' Due to Acid Sugar — A Rare Disease That's Almost Undetected

This Baby Holds the Mystery of 'Diabetes' Due to Acid Sugar — A Rare Disease That's Almost Undetected. In the medical world, there is a very rare disease where a baby's body stores acid sugar in its tissues, leading to organ damage. This disease is known as Infantile Free Sialic Acid Storage Disease (ISSD). This article explores what happens, how it is detected, and what parents and the public need to know.. Introduction: When Sialic Acid Gets 'Trapped' in Cells Imagine a condition where sugar that should be recycled by cells accumulates and fills tiny spaces in the body. That's what happens in a rare genetic disease called Infantile Free Sialic Acid Storage Disease ISSD . This disease belongs to the group of lysosomal storage diseases — where enzymes or transporters in lysosomes do not function properly. Despite its complex-sounding name, ISSD is the story of a small, damaged protein, resulting in significant effects on the babies who have it. What Exactly is ISSD? ISSD occurs when sialic acid — a type of sugar essential for cell function — cannot be removed from the lysosomes. Lysosomes are the 'recycling centers' within cells that break down and process waste materials. Normally, sialic acid is transported out through a special protein called sialin, produced by the SLC17A5 gene. However, in babies with ISSD, this gene has a mutation, causing sialin to be damaged or completely non-functional. As a result, sialic acid accumulates in tissues and is excreted in urine in high amounts. This is the most severe form within the group of sialic acid storage diseases. Early Signs: Difficult to Recognize, But Serious Babies with ISSD usually appear normal at birth, but within the first few weeks, symptoms begin to emerge. Among the early signs are: Coarse facies — features such as a prominent forehead, flattened nasal bridge, and large tongue. Hepatosplenomegaly — enlargement of the liver and spleen. Seizures and other neurological problems. Failure to thrive — the baby has difficulty gaining weight. Muscle stiffness and abnormal movements. These symptoms can be mistaken for other diseases like Gaucher disease or Niemann-Pick disease, making early diagnosis difficult. However, urine and blood tests to detect free sialic acid are a critical first step. How is This Disease Inherited? ISSD is inherited in an autosomal recessive manner. This means both parents must carry one copy of the mutated gene for a child to be at risk of inheriting the disease. With each pregnancy, the risk of a child inheriting two copies and developing ISSD is 25%. The SLC17A5 gene is located on chromosome 6, at position q14–15. Mutations in the same gene can also cause a milder form, known as Salla disease a less severe adult form . Diagnosis: Tests and Challenges Diagnosis of ISSD typically involves: 1. Urine tests — measuring high levels of free sialic acid. 2. Enzyme tests — although indirect, these can help rule out other lysosomal storage diseases. 3. Genetic testing — to detect mutations in the SLC17A5 gene. 4. Brain imaging — MRI may show cerebral atrophy or other changes. However, diagnosis remains challenging because the symptoms are similar to other diseases. In Malaysia, for instance, such cases might not be detected early due to a lack of awareness and access to genetic testing resources. Treatment and Future Prospects Currently, there is no specific treatment for ISSD. Care is supportive — managing seizures, providing nutritional support, and physiotherapy. Hope lies in research for gene therapy and enzyme replacement therapy, which are still in their early stages. For parents, psychological support and support groups are crucial. Several international organizations, such as the National Organization for Rare Disorders NORD , provide information and resources. Conclusion: Awareness is Key Although ISSD is a very rare disease, it reminds us of the marvel and complexity of human biology. Every tiny detail in our genes can have profound effects. With increased awareness and access to genetic testing, more babies can be diagnosed early, and families can receive the support they need. Perhaps one day, through research, we can offer new hope to those affected. Further Reading Resources National Institutes of Health NIH – Genetic and Rare Diseases Information Center Orphanet – Rare disease portal Malaysian Paediatric Association – for clinical references --- Reference: Infantile free sialic acid storage disease — Wikipedia https://en.wikipedia.org/wiki/Infantile free sialic acid storage disease