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. [From Orphanet]
Endocrine, nutritional and metabolic diseases
Autosomal recessive
5q13.2
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. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 210210.1 | Lebanon | Male | Yes | Intellectual disability; Hypotonia; Mo... Intellectual disability; Hypotonia; Motor delay; Peripheral neuropathy; Severe global developmental delay  | NM_022132.5:c.158T>C | Homozygous | Autosomal, Recessive | Nair et al. 2018 | ||
| 210210.2 | United Arab Emirates | Unknown | | NM_022132.5:c.735dup | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2014 | |||
| 210210.G.1 | United Arab Emirates | Unknown | Hypoglycemia; Metabolic acidosis Hypoglycemia; Metabolic acidosis | NM_022132.5:c.735dup | Homozygous | Autosomal, Recessive | Al-Jasmi at al. 2016 | Two patients from tw... |