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| alpha-galactosidase A | Fabry’s disease |
(AKA ceramide trihexosidase)
| C1 esterase inhibitor | hereditary angioedema |
| Cu-dependent ATPase | EDS type IX (AKA X-linked cutis laxa) *lysyl oxidase: decreased activity due to abnormal copper metabolism |
| epoxide hydrolase (inherited deficiency) | phenytoin hypersensitivity syndrome |
| fatty alcohol oxidase deficiency | Sjögren-Larsson syndrome |
| ferrochelatase (deficiency) | Erythropoietic Protoporphyria |
| homogentisic acid oxidase (deficiency) | ochronosis (alkaptonuria) |
| lysyl hydroxylase (deficiency) | EDS type VI |
| phytanic acid oxidase deficiency | Refsum’s syndrome |
| squalene epoxidase | mechanism of terbinafine = interferes with enzyme squalene epoxidase (= necessary for the first step in the conversion of squalene to ergosterol; the accumulation of squalene is fungicidal) |
| steroid sulfatase | X-linked ichthyosis |
| thiopurine methyltransferase (TPMT) | involved in the catabolism of azathioprine; wide differences among individuals in levels of TPMT, which are controlled by a common genetic polymorphism and low levels may contribute to excessive myelosuppression in some patients treated with azathioprine |
| tyrosinase | albinism (absent or defective) |
| uroporphyrinogen decarboxylase | PCT |
lysyl hydroxylase – a collagen modifying enzyme
lysyl oxidase – catalyzes the oxidation of lysyl residues in collagen and elastin
sialophorin - a surface glycoprotein on lymphocytes, neutrophils, and platelets
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