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41 Cards in this Set

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PKU:
increase phenylalanine, decrease tyrosine
Von Gierke's Disease:
glucose-6-phosphatase deficiency (gluconeogenic enzyme)
Alkaptonuria:
Homogentisate oxidase. Homogentisate. Black urine and cartilage, degenerative arthritis
Galactosemia:
Galactose 1-phosphate-uridyltransferase (GALT). Galactase 1-phosphate. Mental retardation, cirrhosis, hypoglycemia.
Hereditary fructose intolerance:
Aldolase B. Fructose 1-phosphate. Cirrhosis, hypoglycemia, renal disease
Homocystinuria:
Cystathionine synthase. Homocysteine and methionine. Mental retardation, vessel thrombosis
Maple Syrup urine disease:
Branched chain a-ketoacid dehydrogenase. Leucine, valine, isoleucine, and their ketoacids. Mental retardation, seizures, feeding problems, sweet-smelling urine.
McArdle's disease:
Muscle phosphorylase. Glycogen. Glycogenosis, muscle fatigue; no increase in lactic acid with exercise
Phenylketonuria (PKU):
Phenylalanine hyrodxylase. Phenylalanine. Mental retardation, microcephaly, decreased tyrosine.
Pompe's disease:
a-1,4-glucosidase (lysosomal enzyme). Glycogen. Glycogenosis, cardiomegaly with early death.
Van Gierke's disease:
Glucose-6-phosphatase (gluconeogenic enzyme). Glucose-6-phosphate. Glycogenosis, enlarged liver and kidney's, hypoglycemia.
Gaucher's disease (adult type):
Glucocerebrosidase. Glucocerebroside. Hepatosplenomegaly; fibrillar appearing macrophages in liver, spleen, and bone marrow.
Hurler's syndrome:
a-l-iduronidase. Dermatan and heparan sulfate. Mental retardation, coarse facial features, corneal clouding, coronary artery disease.
Niemann-Pick disease:
sphingomyelinase. sphingomyelin. Mental retardation, hepatosplenomegaly, foamy macrophages.
Tay-Sachs disease:
Hexosaminidase. GM2 ganglioside. Mental retardation, muscle weakness, cherry-red macula, blindness.
Most common AD disorder:
von willebrand disease
Most common X-linked disorder:
fragile X syndrome
Fragile X syndrome:
Trinucleotide repeat disorder. Long face, large mandible, everted ears. macro-orchidism (enlarged testes) at puberty.
Lesch-Nyhan syndrome:
Deficiency of HGPRT. Mental retardation, hyperuricemia, self-mutilation.
Alports syndrome:
hereditary glomerulonephritis with nerve deafness.
Nondisjunction:
unequal separation of chromosomes in meiosis.
Mosaicism:
nondisjunction in mitosis
Cri du chat syndrome:
deletion short arm chromosome 5. mr, cry, vsd.
Klinefelter's syndrome:
decrease testosterone and inhibin; increase LH and FSH, respectively.
Most common pathogen causing a congenital infection:
cytomegalovirus
Alcohol:
mental retardation, microcephaly, atrial sepital defect
Cocaine associated with congenital defects:
Microcephaly, renal agenesis, congenital heart disease
Diethylstilbestrol associated with congenitcal defects:
Vaginal or cervical clear cell carcinoma, mullerian defects
Phenytoin associated with congenital defects:
nail and distal phalanx hypoplasia, cleft lip and/or palate
Retinoic acid associated with congenital defects:
Craniofacial, central nervous system, and cardiovascular defects.
Thalidomide associated with congenital defects:
Amelia (absent limbs), phocomelia (seal-like limbs)
Tobacco associated with congenital defects:
Intrauterine growth retardation, low birth weight
Valproate associated with congenital defects:
Neural tube defects
Warfarin associated with congenital defects:
Nasal hypoplasia, agenesis corpus callosum
Cytomegalovirus:
Deafness, IUGR, CNS calcification (periventricular)
Herpes simplex type 2:
IUGR
Rubella:
Deafness, patent ductus arteriosus
Syphilis:
Hepatitis, saddle nose, blindness, peg teeth
Toxoplasmosis:
Blindness, CNS calcification (basal ganglia)
Varicella:
Limb defects, mental retardation, blindness
Triple marker for down syndrome:
decrease AFP, increase hCG, decrease urine unconjugated