Alkaptonuria
Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits abnormal copies from each parent (it is a recessive condition) the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidated form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in other organs. Symp
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Alkaptonuria
Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits abnormal copies from each parent (it is a recessive condition) the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidated form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in other organs. Symp
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A alcaptonúria ou ocronose é u ...... o longo do cromossomo 3 (3q2).
@pt
Alkaptonuria (black urine dise ...... ia and the Dominican Republic.
@en
Alkaptonuria, ochronoza, AKU ( ...... ny w stawach oraz kręgosłupie.
@pl
Alkaptonurie (afkorting : AKU; ...... f, namelijk homogentisinezuur.
@nl
Alkaptonurie ist eine seltene, ...... m im Urin, daher Alkaptonurie.
@de
L'alcaptonuria è una rara mala ...... con la formazione di calcoli.
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L'alcaptonurie est une maladie ...... calculs rénaux et prostatique
@fr
La alcaptonuria (enfermedad de ...... r incidencia que otros países.
@es
Алкапто́нури́я — наследственно ...... метаболического блока (1909).
@ru
بِيلَة الكابتونِيَّة أو ألكابت ...... te Oxidase) في الدَم و البول .
@ar
ICD10
E70.2(ILDSE70.210)
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743,688,871
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Pigmentation of the face in alkaptonuria
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A alcaptonúria ou ocronose é u ...... o longo do cromossomo 3 (3q2).
@pt
Alkaptonuria (black urine dise ...... d stones in other organs. Symp
@en
Alkaptonuria, ochronoza, AKU ( ...... ny w stawach oraz kręgosłupie.
@pl
Alkaptonurie (afkorting : AKU; ...... f, namelijk homogentisinezuur.
@nl
Alkaptonurie ist eine seltene, ...... m im Urin, daher Alkaptonurie.
@de
L'alcaptonuria è una rara mala ...... con la formazione di calcoli.
@it
L'alcaptonurie est une maladie ...... calculs rénaux et prostatique
@fr
La alcaptonuria (enfermedad de ...... los renales. La alcaptonuria e
@es
Алкапто́нури́я — наследственно ...... метаболического блока (1909).
@ru
بِيلَة الكابتونِيَّة أو ألكابت ...... te Oxidase) في الدَم و البول .
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label
Alcaptonuria
@es
Alcaptonuria
@it
Alcaptonurie
@fr
Alcaptonúria
@pt
Alkaptonuria
@en
Alkaptonuria
@pl
Alkaptonurie
@de
Alkaptonurie
@nl
Алкаптонурия
@ru
بيلة ألكابتونية
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Alkaptonuria
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