Molecular-clinical correlations in children and adults with fragile X syndrome

Article Abstract:

The variation in size of the gene mutation causing fragile X syndrome can cause varying degrees of disability. Fragile X syndrome is a common cause of mental retardation. Researchers examined correlations between the variations in the size of a nucleotide sequence in the fragile X syndrome gene and patients' physical features and IQ scores.Psychological and IQ tests were administered to 62 males and 61 females with fragile X syndrome. Also, each patient was given a physical feature score based on 10 attributes commonly associated with fragile X syndrome. Then cytogenetic analysis was performed for each patient to determine the length of the nucleotide sequence. In the males studied, the physical feature scores showed no correlation with the size of the nucleotide sequence. But in the female group, those with the smallest nucleotide sequence had the fewest fragile X syndrome physical attributes. Females with the smallest sequence also had the highest IQs of all females studied. IQ was found to be highest in males with a mosaic genotype, or a combination of sequence sizes.

Fragile X syndrome, Mental retardation

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Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency

Article Abstract:

Glycogen storage disease (GSD) associated with Fanconi's syndrome may be caused by phosphorylase b kinase deficiency. GSD is a rare inborn metabolic disorder affecting carbohydrate metabolism. Fanconi's syndrome is characterized by dysfunction of the kidney tubules. Phosphorylase b kinase is a liver enzyme involved in the breakdown of glycogen. Two related infants were diagnosed GSD and Fanconi's syndrome. Their symptoms were failure to thrive, diminished muscle tone, enlarged liver and rickets. Laboratory tests revealed hypoglycemia and excretion of large amounts of glucose in the urine. Enzyme tests showed phosphorylase b kinase deficiency in one infant and no phosphorylase b kinase activity in the other.

Health aspects, Complications and side effects, Protein kinases, Kidney diseases, Glycogenosis, Glycogen storage diseases, Renal manifestations of general diseases, Renal manifestations

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