Page 



Gaucher Disease 41 



Type 2 - Infantile 41 



Type 1 & 3 - Juvenile & Adult 41 



GM1 Gangliosidosis - Type I 41 



GM2 Gangliosidoses 42 



AB Variant 42 



Type I - Tay-Sachs Disease 42 



Type II - Sandhoff Disease 42 



Hyperlipoproteinemia 42 



Type II - Familial Hypercholesterolemia 42 



Krabbe Disease (Globoid Cell Sclerosis) 43 



Metachromatic Leukodystrophy 43 



Infantile 43 



Adult 44 



Multiple Sulfatase Deficiency Disease 44 



Niemann-Pick Disease 44 



Type A 44 



Type B 45 



Type C 45 



Type Unspecified 45 



Refsum Disease 45 



Schilder Disease 45 



Wolman Disease 45 



DISORDERS OF NUCLEOTIDE AND NUCLEIC ACID METABOLISM 45 



Adenosine Deaminase Deficiency (Immune Deficiency 



Disease) 45 



Adenosine Phosphoribosyl Transferase Deficiency 46 

 Inosine Triphosphate Pyrophosphohydrolase (ITPase) 



Deficiency 46 



Lesch-Nyhan Syndrome (HGPRT Deficiency) 46 



Orotic Aciduria 47 



Xeroderma Pigmentosum 47 



Complementation Group A 47 



Complementation Group C 47 



Complementation Group D 48 



Complementation Group E 48 



Complementation Group Undetermined 48 



OTHER DISORDERS OF KNOWN BIOCHEMISTRY 49 



Acatalasia (Acatalasemia) 49 



Menkes Syndrome (Kinky Hair Disease) 49 



Porphyria 49 



Acute Intermittent Porphyria 49 



Cutanea Tarda 50 



Hereditary Coproporphyria 50 



Sickle Cell Anemia (Hemoglobin S) 50 



in 



