DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
Failure to gain weight
Infantile free sialic acid storage disease
Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when sialic acid, a kind of charged sugar, is unable to be transported out of the lysosomal membrane and instead, accumulates in the tissue and free sialic acid is excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17, member 50) gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between positions 14 and 15. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials...
Failure to gain weight - List of case studies
- Right Microtia
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born after 35 weeks +3/7 of pregnancy, weight 2340 gr., to a 39 years old mother, third delivery, fourth pregnancy. Mother is generally ... and mother’s milk. Showed good absorption and weight gain. Renal: normal renal function during hospital stay. Renal ... the need for frequent replacement, high rate of failure and the fact that autogenous reconstruction is precluded if a ...
- Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation
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of 31 cm. Her major problems have been poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled ...
- Feeding problems, vomiting and short stature in prematurely born child
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Failure to thrive short_summary: ...