Sushila (name changed), a young women from West Bengal was married as per the tradition. Her first two male children died within the age of 2 years with liver failure.
One of the child liver biopsy was reported to have Glycogen Storage Disease, however biochemical workup was not available. Since the biochemical workup was not available a confident diagnosis of Glycogen Storage Disease was not possible in this case. Sushila approached Dr Atanu Dutta, a leading Geneticist in Kolkata since they were planning for another pregnancy. Dr Dutta found that the genetic testing was necessary to screen for carrier status for recessive diseases with similar phenotype in the couple.
The geneticist referred the case for advanced genetic testing for a confirmatory prognosis at MedGenome where a clinical exome sequencing (genetic test) was followed by an additional family member Sanger sequencing using next-generation sequencing. It was found that both the husband and wife were heterozygous carrier for GLB1 c.276G>A mutation which is pathogenic for GM1- gangliosidosis type I. On review of liver biopsy slide it was found that liver biopsy alone cannot differentiate between different storage diseases of the liver, hence genetic diagnosis should be absolutely necessary in all cases of suspected Glycogen Storage Diseases.
The couple was advised prenatal screening during their second pregnancy. Screening for the mutations found in the parents in future pregnancies is helpful in preventing such disorders, especially when they have lost one and, in some cases, more than one child with a severe genetic condition.
Summary
- The overall glycogen storage diseases (GSD) incidence in India is estimated 1 case per 20000-43000 live births.
- The glycogen storage diseases are metabolic disorders caused by defects of glycogen degradation, glycolysis, paradoxically and glycogen synthesis.
- There are around 13 types of GSD out of which GSD 1 is most common and account for 90% of the GSD cases.
- GSD 1 affects liver and kidney and caused by thedeficiency of the enzyme due to the mutation in two genes G6PC and SL37A4.
- It is inherited in an autosomal recessive manner which means both copies of the gene in each cell have mutations.
- The symptoms can be seen in infancy or in early childhood, which may include drowsiness, sweating and lack of attention.
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