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EN3-Methylcrotonyl-Coa Carboxylase Deficiency (3MCC)
Alias:
3-Methylcrotonylglycinuria
Methylcrotonyl-Coa Carboxylase Deficiency
Mcc Deficiency
Bmcc Deficiency
Mccd
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency
Deficiency of Methylcrotonoyl-Coa Carboxylase
3-Methylcrotonyl Coa Carboxylase 1 Deficiency
3-Methyl Crotonyl-Coa Carboxylase Deficiency
3-Mcc Deficiency
3mcc Deficiency
3-Mcc
3mcc
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3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to 3-methylcrotonyl-coa carboxylase 1 deficiency and metabolic acidosis, and has symptoms including muscular hypotonia, muscular atrophy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include cingulate cortex and kidney, and related phenotypes are hypotonia and hypoglycemia
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MALACARDS
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