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Wat (wie) is 3-Hydroxyisobutyryl-CoA deacylase deficiency - definitie
3-Hydroxyisobutyryl-CoA deacylase deficiency
GENE, ENCODING 3-HYDROXYISOBUTYRYL-COA HYDROLASE; THE MODE OF TRANSMISSION HAS NOT YET BEEN ESTABLISHED.
3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurodegeneration, increased lactic acid and brain lesions in the basal ganglia. Fewer than 10 patients have been described with this condition.
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
MEDICAL CONDITION
HMG-CoA lyase deficiency; Hydroxymethylglutaryl lyase deficiency; Hydroxymethylglutaric aciduria; Hydroxymethylglutaryl-CoA lyase deficiency; 3-hydroxy 3-methyl glutaryl-coa lyase deficiency; HMG lyase deficiency; HMG CoA lyase deficiency; Hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during fasting.
3-Methylcrotonyl-CoA carboxylase deficiency
HUMAN DISEASE
BMCC deficiency; Deficiency of methylcrotonoyl-CoA carboxylase; 3-MCC; MCC deficiency; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria; 3 methylcrotonic aciduria; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methyl crotonyl-coa carboxylase deficiency; 3-Methylcrotonylglycinuria type 1; 3MCC deficiency; Beta-methyl crotonyl carboxylase deficiency; 3-Methylcrotonylglycinuria
3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine.
