3-methylcrotonyl-CoA carboxylase deficiency

MONDO:0018950

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

Also known as: 3-MCC deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria, MCC deficiency, MCCD, Methylcrotonyl-CoA carboxylase deficiency, methylcrotonylglycinuria

1 clinical trial for this condition and its sub-types, 0 tagged with 3-methylcrotonyl-CoA carboxylase deficiency itself.

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Where it sits in the disease tree

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↑ Classic organic aciduria (20)

Sub-types of 3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase 1 deficiency 1 trial
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 trial

Including sub-types (1) Tagged with 3-methylcrotonyl-CoA carboxylase deficiency (0)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

3-methylcrotonyl-CoA carboxylase deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth