SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY (SCOT)

Question 1

What is  SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY (SCOT)?

Accepted Answer

very rare (>30 patients)
autosomal recessive
mutation in the OXCT1 gene
ketoacidosis during infections
The presence of hypoglycaemia does not exclude the diagnosis of SCOT deficiency in infancy [Berry et al. 2001]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel; Succinyl-CoA Acetoacetat Transferase-Mangel; SCOT-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245050

Question 4

Which enzymes are involved?

Accepted Answer

Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial

Disease	SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY (SCOT)
Synonym	3-@OXOACID CoA TRANSFERASE; OXCT; KETOACIDOSIS OF INFANCY
OMIM	245050 OMIM = Online Mendelian Inheritance of Men
Orphanet	832
Protein (UniProt)	Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
ExPASy	2.8.3.5
Gene locus	5p13.1
ICD	E71.3
Summary	very rare (>30 patients) autosomal recessive mutation in the OXCT1 gene ketoacidosis during infections The presence of hypoglycaemia does not exclude the diagnosis of SCOT deficiency in infancy [Berry et al. 2001]
Laboratory findings	D-Glucose normal/dec (blood) Ketone bodies (urine) inc (urine) 3-Hydroxybutyrate + Acetoacetate inc (plasma) 3-Hydroxybutyric acid inc (urine) 3-Ketoacid CoA transferase dec (fibroblasts) Acetoacetic acid inc (urine) Ketone bodies (urine) inc (blood)
Symptoms	hypoglycemia ketosis, ketoacidosis cardiomyopathy coma early death hepatomegaly (large liver) hypotonia lethargy, drowsiness, apathy metabolic acidosis onset, infancy onset, neonatal tachypnea, hyperpnea, dyspnea, hyperventilation