Alpha 1 Anti-trypsin
Panacinar Emphysema
Alpha-Lidurodinase
Iduronarale – Sulfatase
-Hunter’s disease
oMilder form of Hurler’s
-X – linked
-Bubble boy disease
-Severe combined immune deficiency
-Defect B cells ( HUMORAL Immunity) &
T Cells ( Cell Mediated Immunuty)
Adenosine Deaminase
Di George Syndrome
CATCH 22
T cell defect Thymic hypoplasia Deletion of Chromosome 22 C – cardiac problem A – abnormal facies T – thymic hypoplasia C – cleft Palate H - hypocalcemia
Most common Immunodeficiency world wide?
- Associated with B cell deficiency
Most common Glomerulonephritis
IgA
Most common immunodeficiency in the Philippines
Hepatitis – World Wide
Alcoholic Hepatitis
Undernourished child with recurrent infection / & low immune system?
SCID
Wiskott Aldrich
- Thrombocytopenia
Ceraminidase
Alpha Glucosidase / Acid Maltase
Heparin – N – Sulfatase
San Filippo disease
Spingomyelinase
Nieman Picks Disease
Β – Galactosidase
- Krabbe disease
Phytamoyl – CoA Hydroxylase
Refsum’s Disease
Phytamic Acid
Refsum’s Disease
Copper Dependent Enzyme Deficiency
Copper Deficiency
- Menke’s disease
NADH Oxidase
Pyruvate dehydrogenase
Alper’s disease
Cytochrome Oxidase
Cyanide
Reverse Transcriptase
HIV