Science Quiz / Inborn Errors of Metabolism

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Can you name the Inborn Errors of Metabolism?

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HintAnswer
inborn errors of metabolism cause ____, ____ disease
inborn errors of mertabolism can be detected at birth by this test
2 defects of tyrosine and phenylalanine metabolism are
PKU is due to a deficiency in this enzyme
the main treatment for PKU is
alkaptonuria is caused by defect in
first disease found to be hereditary of inborn metabolic errors
the branched chain amino acids are
deficiency of degradative enzymes results in
MSUD is caused by deficiency of
MSUD treatment involves 2 things
common consequences of MSUD are
lysosomal storage diseases are also referred to as
These two NP diseases are caused by defects in the acid sphingomyelinase (ASM) gene
NPC is caused by defects in this gene
HintAnswer
This NP disease is associated with rapidly progressing neurodegeneration
This NP disease has visceral involvement with no neurological defects
gross lack of coordination of muscle movements, neurological sign
diagnosis of NPB is usually confirmed by presence of
NP cells are of the _____ lineage and are ____-laden foam cells.
degenerative atrophy of the posterior columns of the spinal cord that resulted in progressive ataxia, sensory loss, and muscle weakness
Friedrich Ataxia is caused by mutation in what gene?
the frataxin protein localizes to the
Friedrich Ataxia is a ___ ____ disease
The sequence involved in FRDA is
expansion of the repeat results in interference with
causes children to age rapidly and die by age 12/13
Most patients with aging disease have mutation in gene that encodes protein
Inheritance of progeria is
 

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