A synthetic pathway and associated diseases Dietary protein Phenylalanine (Phe) If (Phe] high Phe hydroxylase PKU Phenylpyruvic acid Albinism Cretinism Tyrosine (Tyr) Melanin Thyroxine Tyr aminotransferase Hydraxyphenylpyruvic acid (НРА) HPA oxídase Tyrosinosis Homogentisic acid (НА) HA oxidase Alkaptonuria Maleylacetoacetic acid co, + H,0 FIGURE 6-11 A section of the phenylalanine metabolic pathway in humans, including diseases associated with enzyme blockages. The disease PKU is produced when the enzyme phenylalanine hydroxylase malfunctions. Accumulation of phenylalanine results in an increase in phenylpyruvic acid, which interferes with the development of the nervous system. discovered through a standard ing response (most were steri approaches in the next section pheromone (hormone) releas» binds to a membrane receptor brane and activates the proteir sequential protein phosphoryl. cade activates the transcriptio: cell to mate. A mutation at

Human Anatomy & Physiology (11th Edition)
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Author:Elaine N. Marieb, Katja N. Hoehn
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Chapter1: The Human Body: An Orientation
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Question

. In Figure 6-11,
a. in view of the position of HPA oxidase earlier in the
pathway compared to that of HA oxidase, would you
expect people with tyrosinosis to show symptoms of
alkaptonuria?
b. if a double mutant could be found, would you expect
tyrosinosis to be epistatic to alkaptonuria?

A synthetic pathway and associated diseases
Dietary protein
Phenylalanine
(Phe)
If (Phe] high
Phe hydroxylase
PKU
Phenylpyruvic
acid
Albinism
Cretinism
Tyrosine
(Tyr)
Melanin
Thyroxine
Tyr aminotransferase
Hydraxyphenylpyruvic acid
(НРА)
HPA oxídase
Tyrosinosis
Homogentisic acid
(НА)
HA oxidase
Alkaptonuria
Maleylacetoacetic
acid
co, + H,0
FIGURE 6-11 A section of the
phenylalanine metabolic pathway in
humans, including diseases associated
with enzyme blockages. The disease PKU
is produced when the enzyme
phenylalanine hydroxylase malfunctions.
Accumulation of phenylalanine results in
an increase in phenylpyruvic acid, which
interferes with the development of the
nervous system.
discovered through a standard
ing response (most were steri
approaches in the next section
pheromone (hormone) releas»
binds to a membrane receptor
brane and activates the proteir
sequential protein phosphoryl.
cade activates the transcriptio:
cell to mate. A mutation at
Transcribed Image Text:A synthetic pathway and associated diseases Dietary protein Phenylalanine (Phe) If (Phe] high Phe hydroxylase PKU Phenylpyruvic acid Albinism Cretinism Tyrosine (Tyr) Melanin Thyroxine Tyr aminotransferase Hydraxyphenylpyruvic acid (НРА) HPA oxídase Tyrosinosis Homogentisic acid (НА) HA oxidase Alkaptonuria Maleylacetoacetic acid co, + H,0 FIGURE 6-11 A section of the phenylalanine metabolic pathway in humans, including diseases associated with enzyme blockages. The disease PKU is produced when the enzyme phenylalanine hydroxylase malfunctions. Accumulation of phenylalanine results in an increase in phenylpyruvic acid, which interferes with the development of the nervous system. discovered through a standard ing response (most were steri approaches in the next section pheromone (hormone) releas» binds to a membrane receptor brane and activates the proteir sequential protein phosphoryl. cade activates the transcriptio: cell to mate. A mutation at
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