Isolated 3-methylcrotonyl-CoA carboxylase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MCCD MCC deficiency 3-methylcrotonylglycinuria |
| Number of Symptoms | 26 |
| OrphanetNr: | 6 |
| OMIM Id: |
210200
210210 |
| ICD-10: |
E71.1 |
| UMLs: |
C0268600 |
| MeSH: |
C535308 |
| MedDRA: |
|
| Snomed: |
124719001 13144005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 2.3 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Classic organic aciduria
-Rare genetic disease |
Symptom Information:
|
|
(HPO:0002919) | Ketonuria | 18 / 7739 | ||||
|
|
(HPO:0001992) | Organic aciduria | Very frequent [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0001276) | Hypertonia | Occasional [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0001254) | Lethargy | 104 / 7739 | ||||
|
|
(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
|
|
(HPO:0001259) | Coma | 65 / 7739 | ||||
|
|
(HPO:0002179) | Opisthotonus | 35 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
|
(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
|
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
|
(HPO:0006573) | Acute hepatic steatosis | 1 / 7739 | ||||
|
|
(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
|
|
(HPO:0100659) | Abnormality of the cerebral vasculature | Occasional [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0001987) | Hyperammonemia | Frequent [Orphanet] | 50 / 7739 | |||
|
|
(HPO:0001943) | Hypoglycemia | Very frequent [Orphanet] | 131 / 7739 | |||
|
|
(HPO:0008281) | Acute hyperammonemia | 2 / 7739 | ||||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0004911) | Episodic metabolic acidosis | 5 / 7739 | ||||
|
|
(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0003812) | Phenotypic variability | 129 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|