Ketoacidosis due to beta-ketothiolase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: BETA-KETOTHIOLASE DEFICIENCY
3-&#64
OXOTHIOLASE DEFICIENCY
T2 DEFICIENCY
3-&#64
KTD DEFICIENCY
3-&#64
KETOTHIOLASE DEFICIENCY
2-&#64
METHYL-3-HYDROXYBUTYRIC ACIDEMIA
MAT DEFICIENCY
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
Number of Symptoms 9
OrphanetNr: 134
OMIM Id: 203750
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Classic organic aciduria
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0002013) Vomiting 191 / 7739
3
 (HPO:0005974) Episodic ketoacidosis 4 / 7739
4
 (HPO:0001944) Dehydration 59 / 7739
5
 (OMIM) Increased urinary 2-butanone 1 / 7739
6
 (OMIM) Increased urinary 2-methylacetoacetic acid 1 / 7739
7
 (OMIM) Increased urinary tiglylglycine 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Increased urinary 2-methyl-3-hydroxybutyric acid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This disorder, initially called alpha-methylacetoacetic aciduria, and more recently 3-oxothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.
Diagnosis OMIM Hiyama et al. (1986) suggested that the deficiency of beta-ketothiolase can be demonstrated in leukocytes, thus obviating the need for skin biopsy.
Clinical Description OMIM Daum et al. (1971) first described this disorder of the sixth step in the catabolism of isoleucine, that for the conversion of alpha-methylacetoacetate to propionate. As in many of the other inborn errors of branched-chain amino acid catabolism, ...
Molecular genetics OMIM In a German boy with 3-ketothiolase deficiency born of nonconsanguineous parents, Fukao et al. (1991) found compound heterozygosity for 2 mutations in the ACAT1 gene: an A347T (607609.0001) mutation inherited from the mother, and a mutation inherited from ...
Population genetics OMIM Monastiri et al. (1999) suggested that beta-ketothiolase deficiency is unusually frequent in Tunisia.