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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Alkaptonuria in children

儿科综合

Common symptoms

指甲、耳软骨出...、尿黑酸、色汗

The pathology of disease

Alkaptonuria in children is AR homogentisate oxidase deficiency; dark urine on standing; ochronosis; joint disease; adulthood; diet; pediatric metabolic/genetics.

Symptoms

Dark urine on standing; child; ochronosis (adult); joint disease; AR; homogentisic acid

Causes

HGD mutation; AR; homogentisate oxidase deficiency; alkaptonuria.

Treatment

Diet low protein; nitisinone selected; orthopedic; pediatric metabolic/genetics; lifelong

Dept

Pediatrics / metabolic / genetics / rheumatology.

Warm reminder: Health education reference only; seek care at regular hospital.