ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

very rare autosomal recessive mutation in the ACAD8 gene m ost patients appear clinically asymptomatic

Question 1

What is  ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
mutation in the ACAD8 gene
most patients appear clinically asymptomatic

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Isobutyrazidurie; Isobutyryl-CoA-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611283

Question 4

Which enzymes are involved?

Accepted Answer

Isobutyryl-CoA dehydrogenase, mitochondrial

Disease	ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
Synonym	IBDD
OMIM	611283 OMIM = Online Mendelian Inheritance of Men
Orphanet	79159
Protein (UniProt)	Isobutyryl-CoA dehydrogenase, mitochondrial
Gene locus	11q25
ICD	E71.1
Summary	very rare autosomal recessive mutation in the ACAD8 gene most patients appear clinically asymptomatic
Laboratory findings	Butyryl/Isobutyrylcarnitine (C4) inc (blood) Isobutyrylcarnitine (C4) inc (blood) Isobutyrylglycine inc (urine) L-Carnitine dec (blood) L-Carnitine dec (plasma)
Symptoms	ketosis, ketoacidosis anemia cardiomyopathy episodic course (clinical symptoms) no clinical symptoms (probably) onset, infancy onset, neonatal vomiting