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Maleylacetoacetate

To energy-extracting pathways

Figure 4.26

Four inborn errors of metabolism result from blocks affecting four enzymes in the pathway for the breakdown of phenylalanine, an amino acid. PKU results from a block of the first enzyme of the pathway (E^. A block at E2 leads to buildup of the amino acid tyrosine, and lack of its breakdown product, the pigment melanin, causes the pink eyes, white hair, and white skin of albinism. A block at E4 can be deadly in infancy, and at E5 leads to alkaptonuria, which causes severe joint pain and blackish deposits in the palate, ears, and eyes.

Essentials of Human Physiology

Essentials of Human Physiology

This ebook provides an introductory explanation of the workings of the human body, with an effort to draw connections between the body systems and explain their interdependencies. A framework for the book is homeostasis and how the body maintains balance within each system. This is intended as a first introduction to physiology for a college-level course.

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