3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: MCC1 DEFICIENCY
MCCD TYPE 1
METHYLCROTONYLGLYCINURIA TYPE I
3-&#64
METHYLCROTONYLGLYCINURIA I
Number of Symptoms 26
OrphanetNr:
OMIM Id: 210200
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:0001263) Global developmental delay 853 / 7739
2
(HPO:0002179) Opisthotonus 35 / 7739
3
(HPO:0001259) Coma 65 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0001254) Lethargy 104 / 7739
6
(HPO:0001347) Hyperreflexia 363 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0002013) Vomiting 191 / 7739
9
(HPO:0011968) Feeding difficulties 240 / 7739
10
(HPO:0001508) Failure to thrive 454 / 7739
11
(HPO:0004911) Episodic metabolic acidosis 5 / 7739
12
(HPO:0008281) Acute hyperammonemia 2 / 7739
13
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
(HPO:0010547) Muscle flaccidity 466 / 7739
15
(HPO:0001252) Muscular hypotonia 990 / 7739
16
(HPO:0001324) Muscle weakness 859 / 7739
17
(OMIM) Apnea, acute 1 / 7739
18
(OMIM) Macro- and microvesicular steatosis, acute 1 / 7739
19
(OMIM) Hypoglycemia, acute 1 / 7739
20
(OMIM) Secondary decrease of plasma free carnitine 1 / 7739
21
(OMIM) Neurologic sequelae not always present 1 / 7739
22
(OMIM) Urinary excretion of 3-methylcrotonylglycine, chronic 1 / 7739
23
(OMIM) Metabolic decompensation precipitated by illness 1 / 7739
24
(OMIM) Ketonuria, acute 1 / 7739
25
(OMIM) Decreased activity of 3-methylcrotonyl-CoA carboxylase (less than 2%) 1 / 7739
26
(OMIM) Urinary excretion of 3-hydroxyisovaleric acid, chronic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Eldjarn et al. (1970) reported a patient with excess urinary excretion of beta-methylcrotonylglycine (MCG). The main clinical features included muscular hypotonia and atrophy, suggestive of a neurologic defect. The disorder was gradually progressive despite a diet low in ...
Molecular genetics OMIM In 4 patients with MCC deficiency with less than 10% normal MCC activity, Baumgartner et al. (2001) identified homozygous mutations in the MCCA gene (see, e.g., 609010.0002-609010.0004). One of the patients had been reported by Steen et al. ...
Population genetics OMIM Gallardo et al. (2001) reviewed preliminary reports that the use of neonatal screening of organic acidurias by tandem mass spectrometry shows that methylcrotonylglycinuria has an unexpectedly high frequency and that in certain populations it may be the most ...