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Fabry Disease (Diffuse Angiokeratoma) 105 



Galactosemia (Transferase Deficiency) 105 



Homocystinuria (Cystathionine Synthase Deficiency) 105 



Hunter Syndrome 105 



Lesch-Nyhan Syndrome (HGPRT Deficiency) 105 



Metachromatic Leukodystrophy 105 



CHROMOSOMAL ABERRATIONS 105 



Translocation 105 



Inversions 106 



Trisomy 106 



APPARENTLY NORMAL 106 



HUMAN LYMPHOCYTE CULTURES WITH BIOCHEMICAL MUTANT CONDITIONS 107 



DISORDERS OF AMINO ACID METABOLISM 107 



Argininemia 107 



Citrullinuria (Citrullinemia) 107 



Cystathionuria 107 



Homocystinuria (Cystathionine Synthase Deficiency) 108 



Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) 108 



Phenylketonuria 108 



DISORDERS OF CARBOHYDRATE METABOLISM 108 



Fucosidosis 108 



Galactosemia (Transferase Deficiency) 109 



Glycogen Storage Disease 109 



Type II - Pompe Disease 109 



Mucopolysaccharidosis 109 



Type IH - Hurler Syndrome 109 



Type IH/S - Hurler/Scheie 109 



Type IIIA - Sanfilippo Syndrome, A 109 



Type VI - Maroteaux-Lamy Syndrome 109 



DISORDERS OF LIPID METABOLISM 109 



Abetalipoproteinemia 109 



Gaucher Disease 110 



Hyperlipidemia 110 



Hyperlipoproteinemia 110 



Type II - Familial Hypercholesterolemia 110 



Metachromatic Leukodystrophy 110 



DISORDERS OF NUCLEOTIDE AND NUCLEIC ACID METABOLISM 11 



HGPRT Deficiency 11 



Inosine Triphosphate Pyrophosphohydrolase (ITPase) 



Deficiency 1] 



Lesch-Nyhan Syndrome (HGPRT Deficiency) 11 



Xeroderma Pigmentosum 11 



OTHER DISORDERS OF KNOWN BIOCHEMISTRY 1] 



Menkes Syndrome (Kinky Hair Disease) 1. 



Porphyria 1] 



Acute Intermittent Porphyria 11 



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