Rare Metabolic Disease Models

Primary hyperoxaluria, phenylketonuria, Gaucher disease, methylmalonic acidemia, propionic acidemia, isovaleric acidemia, type I glutaric acidemia, maple syrup urine disease, aminoaciduria — these are all examples of inherited rare metabolic diseases. These diseases comprise a diverse group of disorders with varying disease prevalence, and the prevalence of single disease is relatively low, but overall incidence rate is high, thus pose serious health risks. Cyagen has developed a comprehensive range of gene knockout, knock-in, and point mutation models for metabolic diseases. We also offer customized or collaborative development services tailored to meet the specific needs of researchers.


Disease Name Target Genes Targeting Methods Ordering
Aromatic L-amino acid decarboxylase deficiency, AADCD Ddc Mu Order Now
BH4-deficient hyperphenylalaninemia Pts KO Order Now
Biotinidase deficiency, BTDD Btd KO Order Now
Citrullinemia Ass1 KO Order Now
Fabry disease, FD Gla KO Order Now
Familial hypercholesterolemia, FH Apoa2 KO Order Now
Fish odour syndrome Fmo3 KO Order Now
Galactosemia Galt KO Order Now
Hereditary fructose intolerance, HFI Aldob KO Order Now
Hereditary tyrosinemia type 1, HT1 Fah KO Order Now
Hereditary tyrosinemia type 2, HT2 Gcdh KO Order Now
Hyperargininemia Arg1 KO Order Now
Inherited Hypomagnesemia, IH Cldn16 KO Order Now
Krabbe disease Galc Mu Order Now
Maple syrup urine disease, MSUD Ppm1k KO Order Now
Dbt KO Order Now
Medium-chain acyl-CoA dehydrogenase deficiency, MCADD  Acadm KI Order Now
Methylmalonic acidemia, MMA Mmut KO Order Now
Ornithine transcarbamylase deficiency, OTCD Otc KO Order Now
Phenylketonuria, PKU Pah KO Order Now
Primary hyperoxaluria type 1, PH1 Agxt KO Order Now
Primary hyperoxaluria type 2, PH2 Grhpr KO Order Now
Sanfilippo syndrome Naglu KO Order Now