BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1; BBOX1

Question 1

What is  BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1; BBOX1?

Accepted Answer

very rare

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 603312

Question 3

Which enzymes are involved?

Accepted Answer

Gamma-butyrobetaine dioxygenase

Disease	BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1; BBOX1
Synonym	COQ5 DEFICIENCY
OMIM	603312 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Gamma-butyrobetaine dioxygenase
ExPASy	1.14.11.1
Gene locus	11p14.2
ICD	---
Summary	very rare
Laboratory findings	Acylcarnitine (C2) normal/dec (plasma) L-Carnitine normal/dec (plasma)
Symptoms	behavior, hyperactive, restless dysmorphism growth retardation, poor growth microcephaly (<2 SD for age) onset, infancy strabismus