I've recently been diagnosed with two extremely rare metabolic diseases, Tetrahydrobiopterin Deficiency and GTP Cyclohydrolase Deficiency. GTP cyclohydrolase is:
"an enzyme that catalyses the reaction of GTP and H2O forming formate and a precursor of tetrahydrobiopterin; a deficiency of this enzyme will result in one form of malignant hyperphenylalaninaemia."
Tetrahydrobiopterin Deficiency is:
"a rare inherited disorder that increases the amount of the amino acid phenylalanine to harmful levels in the bloodstream. While phenylketonuria (PKU) also increases phenylalanine levels and can have similar symptoms, the two disorders are caused by different genes and are treated differently. Tetrahydrobiopterin deficiency is a subtype of hyperphenylalaninemia."
Does anyone have any similar disorders or has heard about anyone else that has Celiac Disease along with a metabolic disorder of some sort?
Celiac Disease And Metabolic Disease
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