Human Disease and Mouse Model Detail
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Human Disease
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Alpha-Methylacetoacetic Aciduria
OMIM ID: 203750
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Synonyms
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2-methyl-3-Hydroxybutyric Acidemia;
3-Ketothiolase Deficiency;
3-Ktd Deficiency;
3-Oxothiolase Deficiency;
Beta-Ketothiolase Deficiency;
MAT Deficiency;
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency;
T2 Deficiency
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Genes and
mouse models
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Mutations in human and/or mouse homologs are associated with this disease
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*Gene is associated with the disease in this species |
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Acat1
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ACAT1*
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1:1 Homology
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Analysis Tools