Galactosemia, And How To Deal With It by Gabrielle

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Galactosemia, And How To Deal With It

Published on Nov 18, 2015

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PRESENTATION OUTLINE

SO, YOUR CHILD HAS GALACTOSEMIA

AS EXPLAINED BY DR. AMBER TAYLOR MD AND DR. GABRIELLE GOLDWORM PHD.

Original diagnosis:
Pyloric stenosis
Age of patient: newborn
Symptoms used in diagnosis: vomiting, exhaustion, loss of appitite
Results: incorrect, true diagnosis, galatosemia

About Galactosemia
Affected chromosome #: 9
Gene abbreviation: GALE , GALK1, GALT
Name of affected protine: enzyme UPD-glactose-4-epimerase
Normal protine function: enables the body to produce galactose
How this affects those with galactosemia: the accumulation of galactose a poison to the body

Statistics, Complications, And What You Can Do

75% of infants with galactosemia will die if not treated
The condition may cause:
An enlarged liver
Kidney failure
Cateract

Continued

Brain damage
Long term complications involving speech/language
Motor skill delays
Specific learning disabilities
Ovarian failure in females

Inheritance; how it happened:
Galactosemia is an autosomal recessive genetic disorder, and in order to have the contion, both parents must be carriers of it or have the condition themselves. Luckily, this is the only way galactosemia can be contacted.

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SORCES

Gabrielle Goldworm