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Summary
BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1 BBOX1
COQ5 DEFICIENCY
603312
OMIM = Online Medalian Inheritance of Men
---
11p14.2
very rare
symptoms
behavior, hyperactive, restless
dysmorphism
growth retardation, poor growth
microcephaly (<2 SD for age)
onset, infancy
strabismus
laboratory finding
L-Carnitine +€mol/lplasma
Acylcarnitine +€mol/lplasma
Literature
de Pablos AL,et al.Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND geneClin Nephrol815363-3682014