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phosphoribosyl pyrophosphate synthetase deficiency
Epidemiology:
- rare
Genetics:
deficiency in PRPS1 associated with
- Charcot-Marie-Tooth disease type 5
- ARTS syndrome
- X-linked deafness 1
Related
phosphoribosyl pyrophosphate [PRPP] synthetase; ribosephosphate pyrophosphokinase
General
carbohydrate inborn error of metabolism
References
- Phosphoribosylpyrophosphate synthetase deficiency
Genetic and Rare Diseases Information Center (GARD)
http://rarediseases.info.nih.gov/GARD/Condition/4337/Phosphoribosylpyrophosphate_synthetase_deficiency.aspx
- OMIM :accession 311850