enzyme deficiency
[abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities. ( CSP )]
UMLS (CSP) C0149676- Disease or Syndrome
Relation/PAR: Disease
Genetic Condition
Metabolic Disease
Genetic Condition
Metabolic Disease
Relation/CHD: alpha galactosidase deficiency
Fructose Intolerance
alpha fucosidase deficiency
galactosemia
familial splenic anemia
glycogen storage disease
G6PD deficiency
C1 inhibitor deficiency
cystathionine synthase deficiency
familial cholesteryl ester deficiency
hypoxanthine guanine phosphoribosyltransferase deficiency
beta galactocerebrosidase deficiency
arylsulfatase A deficiency
iduronidase deficiency disease
Burger Grutz syndrome
arylsulfatase B deficiency
lipoid histiocytosis (classical phosphatide)
gangliosidosis GM2 type II
gangliosidosis GM2 type I
beta galactosidase deficiency
arginosuccinate synthetase deficiency
orotate phosphoribosyltransferase deficiency
arginase deficiency
isovaleric acidemia
ketotic glycinemia
methylmalonic acidemia
pyruvate kinase deficiency
arginosuccinate lyase deficiency
OCP deficiency
hyperornithinemia
PGK deficiency
CAPS deficiency
mannosidase deficiency
congenital sucrose isomaltose malabsorption
G6PD deficiency
Pseudocholinesterase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency
Urea Cycle Enzme Deficiency
Dihydropyrimadine Dehydrogenase Enzyme Deficiency
Fructose Intolerance
alpha fucosidase deficiency
galactosemia
familial splenic anemia
glycogen storage disease
G6PD deficiency
C1 inhibitor deficiency
cystathionine synthase deficiency
familial cholesteryl ester deficiency
hypoxanthine guanine phosphoribosyltransferase deficiency
beta galactocerebrosidase deficiency
arylsulfatase A deficiency
iduronidase deficiency disease
Burger Grutz syndrome
arylsulfatase B deficiency
lipoid histiocytosis (classical phosphatide)
gangliosidosis GM2 type II
gangliosidosis GM2 type I
beta galactosidase deficiency
arginosuccinate synthetase deficiency
orotate phosphoribosyltransferase deficiency
arginase deficiency
isovaleric acidemia
ketotic glycinemia
methylmalonic acidemia
pyruvate kinase deficiency
arginosuccinate lyase deficiency
OCP deficiency
hyperornithinemia
PGK deficiency
CAPS deficiency
mannosidase deficiency
congenital sucrose isomaltose malabsorption
G6PD deficiency
Pseudocholinesterase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency
Urea Cycle Enzme Deficiency
Dihydropyrimadine Dehydrogenase Enzyme Deficiency
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