A Russian Jewish mother presents to your office with a very pale child. The physical exam shows massively enlarged liver and spleen and extensive skeletal disease. Lab exams show anemia and low blood platelets.
Because of your findings and the fact that the child is an Ashkenazi Jewish girl, you suspect it could be a Gaucher Disease, so you refer the patient for a liver biopsy.
You expect that the results of the biopsy will confirm your diagnosis of this autosomal recessive disorder, and thus, it will show an accumulation of sphingolipids in liver cells, as a consequence of a deficit of :
The disease that aflicted him has been object of discussion during many years:absinthe intoxications, arsenite poisoning, bipolar disorder, epilepsy, Lead poisoning, Meniere’s disease, Syphilis, have been among the atributted causes of his symptoms and signs.
Since Vincent Van Gogh’s life and medical condition have been presented in at least 5 major films, and I have already a thread about Porphyria in the movies, I invite you to read the basis that supports that Vincent Van Gogh suffered from Porphyria in the Biochemistry at the movies page.
It is very important to feed the baby very soon after birth, because during the first few hours after birth the enzyme phosphoenolpyruvate carboxykinase is present in very low amounts, and this fact compromise:
