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Modern Genetic Analysis Chapter 3. Gene Function Protein Function and Malfunction in Cells
Table 3-4. Representative Examples of Enzymopathies: Inherited Disorders in Which Altered Activity (Usually Deficiency) of a Specific Enzyme Has Been Demonstrated in Humans

Condition | Enzyme with deficient activity*

Acatalasia | Catalase
Acid phosphatase deficiency | Acid phosphatase
Albinism | Tyrosinase
Aldosterone deficiency | 18-Hydroxydehydrogenase
Alkaptonuria | Homogentisic acid oxidase
Angiokeratoma, diffuse (Fabry disease) | Ceramide trihexosidase
Apnea, drug-induced | Pseudocholinesterase
Argininemia | Arginase
Argininosuccinic aciduria | Argininosuccinase
Ataxia, intermittent | Pyruvate decarboxylase
Citrullinemia | Argininosuccinic acid synthetase
Crigler-Najjar syndrome | Glucuronyl transferase
Cystathioninuria | Cystathionase
Ehlers-Danlos syndrome, type V | Lysyl oxidase
Farber lipogranulomatosis | Ceramidase
Galactosemia | Galactose 1-phosphate uridyl transferase
Gangliosidosis, GM1; generalized, type I, or infantile form | b -Galactosidase A, B, C
Gangliosidosis, GM1; type II, or juvenile form | b -Galactosidase B, C
Gaucher disease | Glucocerebrosidase
Gout | Hypoxanthine-guanine phosphoribosyltransferase; Phosphoribosyl pyrophosphate (PRPP) synthetase (increased activity)
Granulomatous disease | Reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase
Hydroxyprolinemia | Hydroxyproline oxidase
Hyperlysinemia | Lysine-ketoglutarate reductase
Hypophosphatasia | Alkaline phosphatase
Immunodeficiency disease | Adenosine deaminase; Uridine monophosphate kinase
Krabbe disease | Galactosylceramide b -galactosidase
Leigh necrotizing encephalomyelopathy | Pyruvate carboxylase
Maple-sugar urine disease | Keto acid decarboxylase
Niemann-Pick disease | Sphingomyelinase
Ornithinemia | Ornithine ketoacid aminotransferase
Pentosuria | Xylitol dehydrogenase (L-xylulose reductase)
Phenylketonuria | Phenylalanine hydroxylase
Refsum disease | Phytanic acid oxidase
Richner-Hanhart syndrome | Tyrosine aminotransferase
Sandhoff disease (GM2 gangliosidosis, type II) | Hexosaminidase A, B
Tay-Sachs disease | Hexosaminidase A
Wolman disease | Acid lipase
Xeroderma pigmentosum | Ultraviolet-specific endonuclease

SOURCE: Victor A. McKusick, Mendelian Inheritance in Man, 4th ed. Copyright © 1975 by Johns Hopkins University Press.* The form of gout due to increased activity of PRPP is the only disorder listed that is due to increased enzymatic activity.

© 1999 by W. H. Freeman and Company. All rights reserved.