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19 Cards in this Set
- Front
- Back
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Homogentisate oxidasee
Homogentisate AR Black urine (when exposed to light) and cartilage, degenerative arthritis |
Alkaptonuria
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GALT
Galactose 1-P →* Glucose 1-P Galactose 1-phosphate (toxic to liver, CNS) Galactose (in urine) Mental retardation, cirrhosis, hypoglycemia (decrease in gluconeogenic substrate), cataracts (osmotic damage) |
Galactosemia
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Aldolase B
Fructose 1-P →* G-3P + DHAP → Glucose Fructose 1-phosphate (toxic substrate) Cirrhosis, hypoglycemia (decrease in gluconeogenic substrates), hypophosphatemia (used up in phosphorylating fructose) |
Hereditary fructose intolerance
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Cystathionine synthase
Homocysteine →* Homocysteine and methionine Mental retardation, vessel thrombosis; lens dislocation, arachnodactyly (similar to Marfan syndrome; genetic heterogeneity) |
Homocystinuria
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Branched chain α-ketoacid dehydrogenase
Leucine, valine, isoleucine, and their ketoacids Mental retardation, seizures, feeding problems, sweet-smelling urine |
Maple syrup disease
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Phenylalanine hydroxylase
Phenylalanine →* Phy Neurotoxic by-products Mental retardation, microcephaly, mousy odor (Phy converted into phenylacids), decreased pigmentation (melanin derives from tyrosine) |
PKU
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Muscle phosphorylase
Glycogen Glycogenosis, muscle fatigue; no lactic acid increase with exercise |
McArdle's disease
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α-1,4-Glucosidase (lysosomal enzyme)
Glycogen Glycogenosis, cardiomegaly with early death |
Pompe's disease
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Glucose-6-phosphatase (gluconeogenic enzyme)
Glucose 6-phosphate Glycogenosis, enlarged liver and kidneys, hypoglycemia (no response to glucagon or other gluconeogenesis stimulators) |
Von Gierke's disease
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Glucocerebrosidase
Glucocerebroside Hepatosplenomegaly; fibrillar-appearing macrophages in liver, spleen, and bone marrow |
Gaucher's disease
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α-l-Iduronidase
Dermatan and heparan sulfate Mental retardation, coarse facial features, short neck, corneal clouding, coronary artery disease |
Hurler's syndrome
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Sphingomyelinase
Sphingomyelin Mental retardation, hepatosplenomegaly, foamy macrophages |
Niemann-Pick disease
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Hexosaminidase
GM2 ganglioside Mental retardation, muscle weakness, cherry-red macula, blindness |
Tay-Sachs disease
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-mental retardation
-clenched hands with overlapping fingers -VSD -early death |
Edward's trisomy 18
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-mental retardation
-cleft lip and palate -polydactyly -VSD -cystic kidneys -early death |
Patau-trisomy 13
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deficiency of HGPRT
MR, hyperuricemia, self-mutilation |
Lesch-Nyhan
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-MR, cat-like cry, VSD
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Cri du chat, deletion short arm of c'some 5
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-MR, short stature, hypotonia at birth, obesity, hypogonadism
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Prader-willi, paternal microdeletion on c'some 15
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-MR, wide-based gait, inappropiate laughter, happy puppet
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Angelman's-maternal c'some microdeletion on 15
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