3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: 3-&#64
METHYLCROTONYLGLYCINURIA II
METHYLCROTONYLGLYCINURIA, TYPE II
MCC2 DEFICIENCY
Number of Symptoms 16
OrphanetNr:
OMIM Id: 210210
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003108) Hyperglycinuria 11 / 7739
2
(HPO:0001992) Organic aciduria 28 / 7739
3
(HPO:0001051) Seborrheic dermatitis 25 / 7739
4
(HPO:0001596) Alopecia 162 / 7739
5
(HPO:0001993) Ketoacidosis 17 / 7739
6
(HPO:0003353) Propionyl-CoA carboxylase deficiency 2 / 7739
7
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
10
(HPO:0010547) Muscle flaccidity 466 / 7739
11
(HPO:0001252) Muscular hypotonia 990 / 7739
12
(OMIM) 3-methylcrotonyl-CoA-carboxylase deficiency 1 / 7739
13
(OMIM) Tiglycinuria 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Beta-methylcrotonylglycinuria 1 / 7739
16
(MedDRA:10003694) Atrophy 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Beemer et al. (1982) reported 2 Vietnamese sibs with isolated 3-methylcrotonyl-CoA carboxylase deficiency who presented in early childhood shortly after arriving as immigrants to the Netherlands. Both children excreted large amounts of 3-methylcrotonylglycine (MCG) and 3-hydroxyisovaleric acid (HIVA). ...
Molecular genetics OMIM In the Kurdish patient with MCC2 deficiency reported by Bannwart et al. (1992), Baumgartner et al. (2001) identified a homozygous mutation in the MCCC2 gene (609014.0002).

In the Swiss patient reported by Gitzelmann et al. (1987), ...