Page 726 - Williams Hematology ( PDFDrive )

700 Part VI: The Erythrocyte Chapter 47: Erythrocyte Enzyme Disorders 701

TABLE 47–3. Red Cell Enzyme Abnormalities Not Leading to Hemolytic Disease
Diagnosis Estimated
Enzyme Clinical Features Inheritance Reference Assay Frequency * Reference
6-Phosphogluconate dehydroge- None AR 580 Unusual 166–168
nase (complete deficiency)
6-Phosphogluconolactonase Probably none AD 648 Unusual 163
(partial defect)
δ-ALA dehydrase None AD 649
Acetylcholinesterase None AR 580 Very rare 260
Adenine phosphoribosyl Kidney stones AR 650 Rare 651
transferase
Adenosine deaminase (decreased Immunodeficiency AR 580 Rare 652
activity)
AMP deaminase None AR 653 Unusual 654
Bisphosphoglycerate mutase Erythrocytosis AR 580 Very rare 377, 380
Carbonic anhydrase I None AR 655 Rare 656
Carbonic anhydrase II Osteoporosis AR Rare 657
Catalase Oral ulcers in some AR 580 Rare 658
types
Cytochrome-b -reductase Methemoglob- AR 580 Unusual 659
5
inemia; mental
retardation
Enolase HNSHA? AD? 580 Rare 115, 116
Galactokinase Cataracts AR 580 Rare 660
Galactose-1-P-uridyltransferase Cataracts; mental AR 580 Rare 661
retardation; liver
disease
Glutathione peroxidase (partial None AR and AD 662 580 Very common 580, 662
deficiency)
Glutathione reductase (partial None Usually not 580 Very common 662, 663
deficiency) inherited 662
Glutathione-S-transferase HNSHA ? 580 Very rare 228
Glyceraldehyde-3-phosphate None AD 580 Unusual 94
dehydrogenase (partial defect)
Glyoxalase I None AR Rare 664
Hypoxanthine-guanine phosphori- Lesch-Nyhan syn- SL 665 Rare 666
bosyl transferase (HGPRT) drome (neurologic
symptoms and gout)
Inosine triphosphatase None AR 656 Rare 667
Lactate dehydrogenase None AR 580 Rare 135
NADPH diaphorase None AR 580 Rare 668
Phosphoglucomutase None AR 580 Rare 669
Transaldolase Liver disease, AR 670 Rare 175
thrombocytopenia,
HNSHA?
Uroporphyrinogen 1 synthase Porphyria AD 671 Unusual (com- 672
mon in selected
populations)

AD, autosomal dominant; ALA, aminolevulinic acid; AMP, adenosine monophosphate; AR, autosomal recessive; HNSHA, hereditary nonsphero-
cytic hemolytic anemia; NADPH, nicotinamide adenine dinucleotide phosphate (reduced form); SL, sex-linked.
*Very common if incidence is >5 percent, common if 1 to 5 percent, unusual if 0.01 to 1 percent, rare if <0.01 percent.

Kaushansky_chapter 47_p0689-0724.indd 701 9/17/15 6:44 PM