NDLI: Combined methylmalonic aciduria and homocystinuria

Content Provider	Scilit
Author	Alhaj, Safa Ozdil, Mine Ozyilmaz, Isa Altun, Gurkan Aydin, Ahmet Onal, Hasan
Copyright Year	2008
Description	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.
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0035-1557421.pdf
Ending Page	076
Page Count	4
Starting Page	073
ISSN	13042580
DOI	10.1055/s-0035-1557421
Journal	Journal of Pediatric Neurology
Issue Number	01
Volume Number	06
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2008-03-01
Access Restriction	Open
Subject Keyword	Journal: Journal of Pediatric Neurology Methylmalonic Aciduria
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical) Pediatrics, Perinatology and Child Health

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Combined methylmalonic aciduria and homocystinuria