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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Homocystinuria

儿科综合

Common symptoms

肝脾肿大、紧张、脊柱侧弯、骨质疏松、酮症酸中毒、冠状动脉栓塞、尿中有特殊鼠臭味、反应迟钝、惊厥

The pathology of disease

Homocystinuria is inherited methionine metabolism disorder (cystathionine beta-synthase deficiency); Marfanoid habitus; lens dislocation downward; thromboembolism; intellectual disability.

Symptoms

Tall Marfanoid habitus; downward lens dislocation; thromboembolism; intellectual disability; osteoporosis

Causes

Cystathionine beta-synthase deficiency; autosomal recessive.

Treatment

Low-methionine diet; pyridoxine (B6); betaine; vitamin B12/folate

Dept

Genetics / pediatrics / metabolism.

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

Family room

儿科综合Overview of the Western Medical Room