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HGD CONSULTING LLC

in the HGD gene have been found to cause alkaptonuria. This condition is characterized by arthritis · kidney stones · areas of dark pigmentation · and dark urine. Most of the HGD gene variants change single amino acids in the homogentisate 1 · 2-dioxygenase enzyme. These changes severely reduce the function of the homogentisate 1 · 2-dioxygenase enzyme. Without a fully functional version of this enzyme · phenylalanine and tyrosine are not broken down properly · which causes cartilage and skin to darken. Over time · this pigment can build up and harden (calcify) · 2-DIOXYGENASE · HGD Gene and Variant Databases NCBI Gene ClinVar References Amaya AA · Brzezinski KT · Farrington N · Moran GR. Kinetic analysis of human homogentisate 1 · 2-dioxygenase. Arch Biochem Biophys. 2004 Jan 1 · 421(1):135-42. doi: 10.1016/j.abb.2003.10.014. Citation on PubMed Bernardini G · Braconi D · Zatkova A · Sireau N · Kujawa MJ

CLEARWATER, FL 33764

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in the HGD gene have been found to cause alkaptonuria. This condition is characterized by arthritis
kidney stones
Learn more
areas of dark pigmentation
and dark urine. Most of the HGD gene variants change single amino acids in the homogentisate 1
2-dioxygenase enzyme. These changes severely reduce the function of the homogentisate 1
2-dioxygenase enzyme. Without a fully functional version of this enzyme
phenylalanine and tyrosine are not broken down properly
which causes cartilage and skin to darken. Over time
this pigment can build up and harden (calcify)
2-DIOXYGENASE
HGD Gene and Variant Databases NCBI Gene ClinVar References Amaya AA
Brzezinski KT
Farrington N
Moran GR. Kinetic analysis of human homogentisate 1
2-dioxygenase. Arch Biochem Biophys. 2004 Jan 1
421(1):135-42. doi: 10.1016/j.abb.2003.10.014. Citation on PubMed Bernardini G
Braconi D
Zatkova A
Sireau N
Kujawa MJ

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2219 BUENA VISTA DRIVE

CLEARWATER, FL 33764

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