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What is inheritance of G6PD defiency and what population is effected more often
X-linked recessive; blacks
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What is NAD/NADP made form
Niacin, 'Serotonin, melatonin
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What is osteogenesis imperfecta often confused with
child abuse
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What is the biochemical defect in Metachromatic leukodystrophy and what is the inheritance pattern
deficiency of arylsulfatase A;Autosomal recessive
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What is the biochemical defect in Nieman-Pick disease and how is it inherited
deficiency of Beta glucocerebrosidase;autosomal recessive
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What is the biochemical effect of G6PD defiency
decrease in NADPH which is necessary to reduce glutathione which in turn detoxifies free radicals and peroxides
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What is the cause of Cystinuria and what are the signs/symptoms
inheritied defect o the tubular amino acid transporter for Cystine, ornithine, Lysine and Arginine in kidneys excess cystine in urine
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What is the cause of Fabry's disease and what is the common clinical problem
Alpha-galactosidase Adeficiency; gives accumulation of ceramide trihexoside causing renal failure
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What is the cause of galactosemia?
Absence of galactose-1-phosphate uridyltransferase;accumualtion of toxic substances (galactitol)
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What is the characteristic defect in Hurler's syndrome
Alpha-L-iduronidase defiency leads to corneal clouding and mental retardation
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What is the characteristic findings in Neurofibromatosis
Multiple café-au-lait spots,neurofibromas increased tumor susceptibilty
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What is the clinical picture of a patient with cystic fibrosis
pulmonary infections,exocrine pancreatic insufficiency, infertility in men
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What is the clinical picture ofDuchenne's muscular dystrophy
muscular weakness and degeneration
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What is the defect in Maple Syrup Urine disease
decreased Alpha-ketoacid dehydrogenase. blocks degradation of branched amino acids Ile. Val. Leu
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What is the epidemiology oflactose intolerance
Age-dependnet and/orhereditary (blacks and Asians)
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What is the etiology of Homocystinuria
defect in cystathioninesynthase. Two forms: 1.deficiency 2. decreased affinity of synthase for pyridoxal phosphate(cofactor)
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What is the finding of Hunter's syndrome on H&P
mild mental retardation but no corneal clouding
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What is the formula for Hardy-Weinberg equilibrium?
p^2 +2pq + q^2 =1 and p+q=1
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What is the genetic mech. Of Cystic fibrosis and it's inheritance
AR; multiple loss-of-function mutations in a chloride channel
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What is the genetic mechanism of Duchenne's muscular dystrophy
X-linked recessive;caused by multiple loss-of-function mutations in a muscle protein
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What is the genetic mechanism of Fragile X MR
X-linked; progressive expansion of unstable DNA causes failure to express gene-encoding RNA-binding protein
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what is the genetic mechanism of Neurofibromatosis
AD, multiple loss-of function mutations in a signaling molecule
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What is the genetic problemin Down's Syndrome
trisomy 21 chromosomal imbalance
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What is the inheritance of Krabbe's disease
Autosomal recessive
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what is the inheritance pattern and carrier frequency in Tay-Sach's
Autosomal recessive; 1:30 inJews of European descent and 1:300 in the general populaition
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What is the inheritance pattern of Ehlers-Danlos syndrome
10 types of this syndrome Type IV-Auto Dominant Type VI-Auto Recessive Type IXX-linked recessive
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What is the inheritance pattern of Gaucher's disease
Autosomal recessive
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What is the inheritance pattern of xeroderma pigmentosa
autosomal recessive
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What is the inheritiance pattern of Fabry's disease
X-linked recessive
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What is the lab symptoms of G6PD defiency
Heinz Bodies: altered hemoglobin precipitate in RBC
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What is the most distinguishing finding in Tay-Sach's disease on Physical exam
cherry red Macula; these patients die by 3
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What is the pathogneumonic cell type founde in Gaucher's disease
Gaucher's cells with the characteristic 'crinkled paper'appearance of enlarged cytoplasm
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What is the pattern of inheritance of Leber's hereditary optic neuropathy?
mitochondrial inheritance
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What is the phenotype in Osteogenesis imperfecta
increased susceptibility to fractures;connective tissue fragility
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What is the phenotype of Down's syndrome
Mental and growth retardation, dysmorphic features, internal organ anomalies especially heart problems
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What is the phenotype ofFragile X
mental retardation,characteristic facial features,large testes
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What is the predominant problem in Ehlers-Danlos syndrome
Faulty collagen synthesis
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What is the prevalance of cystic fibrosis
1:2000 whites; very rare among Asians
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What is the prevalandce of Neurofibromatosis
1:3000 with 50% being new mutations
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What is the prevalence of Down's syndrome and what are the risk factors
1:800; increased risk with advanced maternal age
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What is the prevalence of Duchenne's musc. dys.
1:300; 33% new mutations
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What is the prevalence of Fragile X- associated mental retardation
1:1500 males: can be infeamales is a multi-stepprocess
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What is the prevalence of osteogenesis imperfecta
1:10000,
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What is the prevalence of Phenylketonuria
1:10000
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What is the priamry defect in Fructose intolerance and how is it inherited?
defiency of aldolase B,autosomal recessive
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What is the primary defect in Alkaptonuria
congenital defiency of homogentisic acid oxidase in the degradative pathway of tyrosine
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What is the primary defect(s) found in Phenylketoneuria
either 1.decreased phenylalanie hydroxylase or 2. decreased tetrahydrobiopterin cofactor
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What is the rate-limiting enzyme in the Hexose-Monophosphate shunt?
Glucose-6-phosphate dehydrogenase
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What is the result of pyruvate dehydrognease deficiency
backup of substrate (pyruvate and alanine) resulting in lactic acidosis
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What is the specific defect in Xeroderma pigmentosa
defective excision repair such as uvr ABC exonuclease; have inability to repair thymidine dimer formed by UV light
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