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Journal of Pediatric Neurology 2008; 06(01): 073-076
DOI: 10.1055/s-0035-1557421
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Combined methylmalonic aciduria and homocystinuria

Hasan Onal
a   Department of Pediatrics, Division of Metabolic Diseases and Nutrition, Bakirkoy Maternity and Childhood Diseases Training Hospital, Istanbul, Turkiye
,
Safa Alhaj
b   Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye
,
Mine Ozdil
b   Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye
,
Isa Ozyilmaz
b   Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye
,
Gurkan Altun
b   Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye
,
Ahmet Aydin
c   Department of Pediatrics, Division of Metabolic Diseases and Nutrition, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye
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Publication History

24 July 2007

29 September 2007

Publication Date:
30 July 2015 (online)

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Abstract

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.

Keywords

Vitamin B12 - methylmalonic aciduria - homocystinuria