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48 Cards in this Set
- Front
- Back
what is the inheritance pattern of most inborn errors of metabolism |
autosomal recessive with a carrier state not associated with morbidity |
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what is the most common monogenic disorder of carbohydrate metabolism |
transferase deficency galactosemia (1 in 30,000 newborns) |
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what is the gene that is dysfunctional in most cases of galactosemia |
GAL-1-p-uridyl transferase |
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what populations are more prone to galactosemia |
western europeans |
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what are the clinical manifestations of classic galactosemia |
poor suck, failure to thrive, jaundice
untreated: sepsis, hyperammonemia, shock
cataracts (10%) |
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accumulation of galactitol and galactonate in the blood may be a sign of which error of metabolism |
galactosemia |
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what are long term effects of galactosemia |
poor growth, development, retardation |
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what is the most common enzyme disorder that leads to defecits in fructose metabolism |
fructokinase deficency |
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what are the clinical consequences of a fructokinase deficency |
asymptomatic fructosuria |
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what are the consequences of a deficency in fructose 1,6 bisphosphatase |
impaired gluconeogenesis and acidemia |
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what are the most common errors of carbohydrate metabolism |
glucose metabolism. usually heterogeneous causes (environmental and genetic)
ex. diabetes |
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what is LPH and why do we need it |
LPH is lactase hydrolase which is encoded for on the lactase gene.
we need it to break down lactose which is found in breast milk.
lactose deficency can be due to nonpersistance or a more problematic congenital lactase deficency which is associated with malnutrition and severe dehydration in infants |
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What 2 organs are most affected by glycogen storage disorders |
liver skeletal muscle |
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what are the 2 major causes of PKU |
#1 way more common is deficit in phenylalanine hydroxylase (PAH) this results in classic PKU
#2 is defect in dihydrobiopterin reductase which regenerates BH4 (tetrahydrobiopterin) and facilitates the PAH reaction |
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what amino acid is the starting point for synthetic pathways of catecholamines |
tyrosine |
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defecit in fumarylacetoacetate hydrolase results in what deficit |
tyrosinemia type 1 |
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excess fumarylacetoacetate in the blood may be indiciative of what disease |
hereditary tyrosinemia type 1 |
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a deficit in tyrosine aminotransferase may result in the following clinical symptoms? associated with which inborn error of metabolism? |
hereditary tyrosinemia type 2
corneal erosions, thickening of skin on palms, mental retardation |
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what causes maple syrup urine disease |
error in metabolism of BCAAs
alpha ketoacid dehydrogenase (BCKAD) is required to break down BCAAs and if deficient causes maple syrup disease
maple syrup disease causes buildup of ketoacids and stunts growth and development if untreated can be fatal |
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what is the most common inborn error of fatty acid metabolism |
deficiency of medium chain acyl coenzyme A dehydrogenase (MCAD) |
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when does a MCAD deficiency often manifest |
in fasting states (when fatty acids would usually be oxidized to ketones) |
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what are the symptoms of untreated MCAD deficiency |
vomiting and fatty acid accumulation, culmination is exhaustation of glucose suppy with cerebral edea and encephalopathy |
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What is LCHAD deficiency? |
long chain hydroxyacyl coa dehydrogenase deficiency. FAO disorder with a worse prognosis than the more common MCAD deficiency |
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The final step of cholesterol synthesis is catalyzed by what enzyme? Failure of this enzyme results in what condition? |
(Triangle)7-sterol reductase (DHCR7)
Smith-lemli-opitz syndrome |
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what is unusual about SLO? |
it produces various congenital malformations. Most inborn errors of metabolism do not cause congenital malformations |
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what condition results from a CYP21A2 mutation? |
CAH, loss of gluco/mineralcorticoid production, increased adrenal androgen secretion |
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what will female infant with CAH have? |
ambiguous genetalia , can have salt wasting |
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what will boys with CAH have? |
salt wasting |
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what is salt wasting |
decreased aldosterone leads to increased loss of Na/Cl/H2O and retention of K+ |
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what is CAIS/PAIS? how does it affect 46,XY persons? |
complete or partial androgen insensitivity.
in males it will ambiguous or female appearing external genetalia and failure to produce male secondary sex characteristics |
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What is the most severe Peroxisomal Biogenesis Deficiency (PBD)? What are its symptoms? |
zellweger dsisease. severe hypotonia, progressive disease of white matter, and usually death in pregnancy |
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zellweger syndrome adrenoleukodystrophy refsum and rhizomelic chondroysplasia type 1 are all what type of disorder |
Peroxisome biogenesis disorders |
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what is the most common PED (single peroxisomal enzyme deficiency) |
X linked adrenokeukodystrophy (ALD) |
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what are MPS disorders |
MPS disorders (mucopolysaccharidoses) are caused by a reduced ability to degrade one or more glycosaminoglycans
They are characterized by progressive multisystem deterioration |
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What are Type I, II MPS diseases |
iduronidase (type 1) prototical MPS disorder
hunter syndrome (type 2) associated with iduronate sulfatase |
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What are the 3 types of Gaucher disease |
deficiency of lysosomal enzyme: glucosylceramidase (glucocerebrocyde) results in accumulation of glucosylceramide
type 1- no CNS type 2- yes CNS type 3- mix of 1 and 2 |
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What is the N370S allele |
mutant GBA allele that is associated with a milder (Type 1) gaucher's disease |
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what are 2 major functions of the urea cycle |
removal of nitrogenous wastes as urea
de novo arginine synthesis |
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how are urea cycle disorders inherited (hint OTC) |
autosomal recessive
OTC is X linked recessive, also most prevalent |
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What is a deficency in the PDH complex result in? |
lactic acidemia and developmental delay |
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what causes cystineuria |
abnormal transport between cells and extra cellular environment
result is buildup of cystine, lysine, arginine, and ornithine |
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what is cystinosis |
diminished ability to transport cystine across the lysosomal membrane. accumulation of cystine crystals develobs in most tissues |
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what is the most insoluable amino acid? what does accumulation of this amino acid cause |
cystine
nephrolithiosis and infectio |
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What is Menkes disease (MND)? |
X linked recessive disorder of copper metabolism that results in inability to transport copper fro intestinal cells to blood resulting in a deficiency of copper. Symptoms include mental retardation, siezures, loose skin, death |
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What is Wilson Disease (WND)? |
Copper excess caused by defective excretion of copper into the biliary tract
it results in hepatolenticular degeneration, arthropathy, cardiomyopathy, kidney damage |
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what is the kayser-fleisher ring? when do you see it? |
deposition of copper in the eye that you see in 95% of wilson syndrome patients |
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what is acrodermatitis enteropathica (AE) |
caused by a deficit in absorption of zinc in the GI tract that results in growth retardation and immune disfunction
a hallmark sign is dermatitis |
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what is hereditary hemochromatosis |
inherited disorder where excess iron is absorbed and stored in various organs
manifests with joint pain diminished libido diabedes and increased pigmentation of skin |