Combined methylmalonic aciduria and homocystinuria

被引：0

作者：

Onal, Hasan ^{[1
]}

Alhaj, Safa ^{[2
]}

Ozdil, Mine ^{[2
]}

Ozyilmaz, Isa ^{[2
]}

Altun, Gurkan ^{[2
]}

Aydin, Ahmet ^{[3
]}

机构：

[1] Bakirkoy Matern & Childhood Dis Training Hosp, Div Metab Dis & Nutr, Dept Pediat, Istanbul, Turkey

[2] Istanbul Univ, Cerrahpasa Med Fac, Dept Pediat, Istanbul, Turkey

[3] Istanbul Univ, Cerrahpasa Med Fac, Div Metab Dis & Nutr, Dept Pediat, Istanbul, Turkey

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2008年 / 6卷 / 01期

关键词：

Vitamin B12; methylmalonic aciduria; homocystinuria;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Combined methylmalonic aciduria and homocystinuria is a very rare disease caused by a defect in the synthesis of two cofactors in cobalamin dependent reactions, i.e. adenosylcobalamin and methylcobalamin, active forms of vitamin B12. Early onset disease consists of neurological, hematological and gastrointestinal abnormalities seen in the first year of life and some minor face abnormalities (long philtrum, wide forehead, big and low set ears, long face). Here we report a 4-month-old male with failure to thrive, pancytopenia and neurological disturbance.

引用

页码：72 / 75

页数：4

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