TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Grünert, Sarah C.
A1  - Sass, Jörn Oliver
T1  - 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
JF  - Orphanet Journal of Rare Diseases
N2  - Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1.
Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed.
Results: For 89.6% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities. Conclusion: This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.
KW  - Ketolysis
KW  - Beta-ketothiolase
KW  - Organic aciduria
KW  - Isoleucine
KW  - Ketone body
KW  - Metabolic acidosis
KW  - Metabolicdecompensation
KW  - ACAT1
KW  - Inborn error of metabolism
UN  - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-48946
SN  - 1750-1172
SS  - 1750-1172
U6  - https://doi.org/10.1186/s13023-020-01357-0
DO  - https://doi.org/10.1186/s13023-020-01357-0
PM  - 32345314
VL  - 15
IS  - 106
SP  - 7
S1  - 7
PB  - BioMed Central
CY  - London
ER  -