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Results 1 - 5 of 5 for Phosphate transport defect
  1. Glycogen storage disease type I 
    ... the condition. Glucose-6-phosphate deficiency Glucose-6-phosphate transport defect GSD I GSD type I Hepatorenal form of ... Gierke's disease Genetic Testing Registry: Glucose-6-phosphate transport defect Genetic Testing Registry: Glycogen storage disease due to ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  2. DOLK gene 
    ... oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein.Dolichol phosphate is also needed for the formation of GPI ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
  3. DOLK-congenital disorder of glycosylation 
    ... oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein.Mutations in ... phosphate is not produced and glycosylation cannot proceed normally. ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  4. Fryns syndrome 
    ... instructions for making an enzyme called GPI ethanolamine phosphate transferase 1. This enzyme takes part in a series of steps that produce a molecule called a glycophosphatidylinositol (GPI) anchor. The GPI anchor transports many different proteins to the cell membrane, ensuring ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  5. PIGN gene 
    ... they reduce the amount of functional GPI ethanolamine phosphate transferase 1 enzyme that is available to modify ... building blocks (amino acids) in the GPI ethanolamine phosphate transferase 1 enzyme. Though the features seen in ...
    https://medlineplus.gov/genetics/gene/pign - Genetics