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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Homocystinuria in children

儿科综合

Common symptoms

骨质疏松、微血栓形成、蜘蛛指、尿中有特殊鼠臭味、智力发育迟缓、惊厥

The pathology of disease

Homocystinuria in children is cystathionine beta-synthase deficiency; tall; lens dislocation; marfanoid; thromboembolism; children; AR; B12; low-methionine diet; pediatric metabolic/genetics.

Symptoms

Tall; lens dislocation; marfanoid; thromboembolism; child; AR; CBS; diet

Causes

CBS mutation; AR; homocystinuria; child.

Treatment

Low-methionine diet; pyridoxine; betaine; pediatric metabolic/genetics; prevent thromboembolism

Dept

Pediatrics / metabolic / medical genetics / pediatric ophthalmology.

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

Family room

儿科综合Overview of the Western Medical Room