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jayanta
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PAEDIATRIC MEDICINE-NEONATOLOGY
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01.21.06 (2 years ago)
#1
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WHAT IS THE MOST COMMON INBORN ERROR OF METABOLISM?
1.POMPE'S DIS.
2.GAUCHER'S DIS.
3.PHENYLKETONURIA.
4.MAPLE SYRUP URINE DIS.
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decembermist
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01.21.06 (2 years ago)
#2
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Wat I knw is
Phenylketonuria (PKU) is the most common disorder of amino acid metabolism.
The most common type of glycogen storage disease is classified as type 1A
This is a nice article on IEM - 
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jayanta
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01.22.06 (2 years ago)
#3
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thanks
mist.
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jayanta
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01.22.06 (2 years ago)
#4
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THEN WHAT IS THE ANSWER TO MY QUESTION?
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trinity
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01.22.06 (2 years ago)
#5
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a few stats:
incidence of PKU: 1:14,000 to 1:20,000 live births
incidence of MSUD: 1: 1,85,000 live births
incidence of pompe's : 1:40,000 live births
Plz note: all these statistics are from nelson (17th ed), so these are the ones found in the US population
I cldnt find the incidence of gaucher's in general population. Nelson just says that Gauchers is common in ashkenazi jews, in whom the incidence is 1/1000
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trinity
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01.22.06 (2 years ago)
#6
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I'm in favor of PKU though.
some points which may be useful:
Inborn error of metab: Urine odor
Glutaric acidemia (type III) sweaty feet, acrid
Hawkinsinuria swimming pool
Isovaleric acidemia sweaty feet, acrid
MSUD Maple syrup
Hypermethioninemia Boiled cabbage
Multiple caboxylase deficiency Tomcat urine
Oasthouse urine disease Hops-like
PKU Mousy or musty
Trimethylaminuria Rotting fish
Tyrosinemia Boiled cabbage, rancid butter
REF: NELSON 17 ED
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jayanta
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PAEDIATIC MEDICINE-ANSWER
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01.23.06 (2 years ago)
#7
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thanks,trinity.
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manpreet108
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01.23.06 (2 years ago)
#8
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| decembermist wrote: |
Wat I knw is
Phenylketonuria (PKU) is the most common disorder of amino acid metabolism.
The most common type of glycogen storage disease is classified as type 1A
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most common lysosomal storage disease is gauchers.
ghai says for gauchers--its a relatively common metabolic disorder.but thats a a vague thing to quote.
now what is mc overall--whats the ans given,jayanta?
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jayanta
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PEDIATRICS-NEONATOLOGY
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01.24.06 (2 years ago)
#9
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I KNEW MANPREET YOU KNOW THE ANSWER.
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manpreet108
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01.24.06 (2 years ago)
#10
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so u mean to say--gauchers is the answer given?
if thats what is given--we can cram it up for future use...
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