Combined methylmalonic aciduria and homocystinuria

Article type: Research Article

Authors: Onal, Hasan | Alhaj, Safa | Ozdil, Mine | Ozyilmaz, Isa | Altun, Gurkan | Aydin, Ahmet

Affiliations: Department of Pediatrics, Division of Metabolic Diseases and Nutrition, Bakirkoy Maternity and Childhood Diseases Training Hospital, Istanbul, Turkiye | Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye | Department of Pediatrics, Division of Metabolic Diseases and Nutrition, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkiye

Note: [] Correspondence: Dr. Hasan Onal, Kınalıtepe sokak, Simitaş 7. blok, no: 61, kat: 5, Merter, Istanbul, Turkiye. Tel.: +90 212 5436270/21434-21480; Fax: +90 212 4143177; E-mail: [email protected]

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

Journal: Journal of Pediatric Neurology, vol. 6, no. 1, pp. 73-76, 2008