This metabolic disease typically manifests during the 1st year of life, with severe hypoglycemia, hepatomegaly, growth retardation, hyperlipidemia and hyperuricemia and so on.

• 结果表明,绝大部分患儿在婴儿期起病,最常见的症状为:低血糖、肝脏增大、体格发育落后、易感染及高脂血症、高尿酸血症等。