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56 Cards in this Set
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- Back
- 3rd side (hint)
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Missing glucose 6 phosphatase (can't break glycogen down to glucose)
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Von Gierke
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Features of Von Gierke
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*Fasting hypoglycemia leads to seizures
*Increase glycogen in liver leads to protuberant abdomen, hepatomegaly *Increased lactate in blood |
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Missing Lysosomal alpha 1,4 glucosidase (acid maltase)
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Pompe
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Features of Pompe
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*most severe of glycogen diseases
*cardiomegaly with early death |
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Missing debranching enzyme alpha 1,6 glucosidase
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Cori Disease
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Features of Cori
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Similar to Von Gierke
*fasting hypoglycemia *hepatomegaly *normal lactate |
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Missing glycogen phosphorylase
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McArdle Disease
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Features of McArdle Disease
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*myoglobinuria may lead to renal failure
*Muscle cramps due to increased glycogen |
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Missing homogentisic acid (intermediate in tyrosine metabolism)
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Alkaptonuria
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Features of Alkaptonuria
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*black urine and connective tissue
*arthralgias |
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Decreased dihydropterin reductase
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PKU (also decreased phenylalanine hydroxylase)
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Features of PKU
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*mental/growth retardation
*fair skin and eczema (no tyrosine to get to melanin) *overwhelmed large neutral amino acid carrier |
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Deficient alpha galactosidase A
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Fabry's (X recessive)
accumulation of ceramide trihexoside |
lysosomal storage disease
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Features of Fabry's
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*skin lesions (angiokeratoma)
*accumulation of lipids in heart and kidneys *peripheral neuropathy of hands and feet |
A deficiency of the enzyme alpha galactosidase A causes a glycolipid known as globotriaosylceramide (also abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of their proper function. The condition affects hemizygous males, as well as both heterozygous and homozygous females; males tend to experience the most severe clinical symptoms, while females vary from virtually no symptoms to those as serious as males. This variability is thought to be due to X-inactivation patterns during embryonic development of the female.
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Deficient beta glucocerebrosidase
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Gaucher's (glucocerobroside accumulates, which is a constituent of RBCs and WBCs)
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Features of Gaucher's
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*hepatosplenomegaly due to inability of macrophages to clear waste (painless)
*aseptic necrosis of femur *bone crises |
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Deficient sphingomyelinase
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Niemann-Pick (sphingomyelin accumulates in reticuloendothelial cells)
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Features of Niemann Pick
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*cherry red macula
*foam cells *progressive neurodegeneration due to cell death in ganglion cells *hepatosplenomegaly |
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Deficient hexosaminidase
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Tay-Sachs (GM2 ganglioside accumulates)
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Features of Tay-Sachs
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*progressive neurodegeneration with developmental delay
*cherry red macula *lysosomes with onion skin *blind, deaf (startle reflex) and seizures |
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Deficient galactocerebrosidase
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Krabbe's (accumulated galactoceramide)
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Features of Krabbe's
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*deficient myelin due to accumulation of lipids
*peripheral neuropathy with developmental delay *optic atrophy and globoid cells |
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Deficient arylsulfatase A
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Metachromatic Leukodystrophy (accumulation of sulfitides)
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Features of Metachromatic Leukodystrophy
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*sulfitide attacks myelin in CNS and PNS
*ataxia and dementia |
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Deficient alpha L iduronidase
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Hurler's (heparan and dermatan sulfate accumulate)
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Features of Hurler's
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*airway obstruction
*corneal clouding *gargoylism |
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Deficient iduronate sulfatase
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Hunter's (heparan and dermatan sulfate accumulate) X linked
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Features of Hunter's
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*mild hurler's
*aggression |
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deficiency of aldolase B
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fructose intolerance (accumulation of F-1-P)
avoid fructose and sucrose |
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effects of fructose intolerance
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decrease in available phosphate, leading to decrease in glycogenolysis and gluconeogenesis
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symptoms of fructose intolerance
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hypoglycemia
jaundice/cirrhosis vomiting after fructose intake |
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deficiency of fructokinase
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essential fructosuria (fructose appears in blood and urine, benign)
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absence of galactose-1-P uridultransferase
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galactosemia (AR, accumulation of galactitol)
avoid galactose and lactose |
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effects of galactosemia
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cataracts, hepatosplenomegaly, mental retardation
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deficiency of galactokinase
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causes galactitol accumulation, usually cataracts are only manifestation
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defects in albinism
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tyrosinase deficiency (can't make melanin from tyrosine)
defective tyrosine transporters |
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cause of albinism
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lack of migration of neural crest cells
variable inheritance |
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types of homocystinuria
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cystathionine synthase deficiency
decreased cystathionine synthase affinity for B6 homocysteine methyltransferase deficiency |
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cystathionine synthase deficiency leads to
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increased methionine and homocysteine
can't make cysteine, treat with increased cysteine and B12 |
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features of homocystinuria
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mental retardation
osteoporosis (increased homocysteine interferes with collagen cross-linking) tall, kyphotic, lens subluxation down and in, atherosclerosis (Marfanoid) |
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defect in cystinuria
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renal tubular transporter of cysteine, ornithine, lysine and arginine in PCT
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features of cystinuria
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staghorn calculi
treated with acetazolamide to alkalinize the urine |
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defect in MSUD
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blocked degradation of branched amino acids ileucine, valine and leucine due to decreased alpha-ketoacid dehydrogenase
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effects of MSUD
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increased ketoacids (leucine)
CNS defects, mental retardation and death typically presents 4-7 days after birth with lethargy treat with thiamine |
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deficiency in SCID
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adenosine deaminase
ADA deficiency is due to a lack of the enzyme adenosine deaminase coded for by a gene on chromosome 20. There is an accumulation of deoxyadenosine,[2] which causes an increase in S-adenosylhomocysteine; both substances are toxic to immature lymphocytes, which thus fail to mature. As a result, the immune system is severely compromised or completely lacking. |
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defect in lesch nyhan syndrome
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absence of HGPRT (converts hypoxanthine to IMP and guanine to GMP)
X-linked |
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findings in lesch nyhan
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retardation, self-mutilation, aggression, hyperuricemia, gout and choreoathetosis
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deficient enzyme in acute intermittent porphyria (belly full of scars)
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prophobilinogen deaminase (PB and ALA accumulate)
treat with heme infusion |
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deficient enzyme in porphyria cutanea tarda
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uroporphyrinogen decarboxylase (urophorphyrin accumulates)
brought on by sun exposure, treat with choroquine |
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symptoms of porphyrias
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painful abdomen (AIP only)
pink/purple urine polyneuropathy psych (AIP) prescriptions |
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effects of pyruvate kinase deficiency
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hemolytic anemia due to decreased activity of Na/K ATPase
cells gain Ca, lose K, have an increased concentration of Hgb 2,3 BPG also increases, which offsets the damage |
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enzyme deficiency in hereditary methemoglobinemia
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cytochrome B5
also can have HbM, which stabilized the Fe3+ state |
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features of G6PD deficiency
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can't keep glutathione reduced (no NADPH produced)
shortened life span of RBCs no ATP is used or produced Heinz bodies of precipitated Hgb in RBCs bite cells from phagocytic removal from macrophages RBCs more likely to lyse under oxidative stress cause glutathione can't be made in RBC cytoplasm |
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enzymes in heme synthesis that are blocked by lead
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ALA dehydratase (zinc)
ferrochelatase ALA and protophyrin accumulate |
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cause of photosensitivity in porphyria
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porphyrinogens are converted by light to porphyrins, and react with oxygen to form radicals
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oxidizes iron to ferric state (Fe3+)
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ceruloplasmin
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