2-methylbutyryl-CoA dehydrogenase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
2-@ METHYLBUTYRYL GLYCINURIA SBCADD Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency SBCAD deficiency short/branched-chain acyl-coa dehydrogenase deficiency 2-methylbutyric aciduria |
| Number of Symptoms | 21 |
| OrphanetNr: | 79157 |
| OMIM Id: |
610006
|
| ICD-10: |
E71.1 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | < 30 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Amino acid or protein metabolism disease with epilepsy
-Rare neurologic disease Classic organic aciduria -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
|
|
(HPO:0000486) | Strabismus | 576 / 7739 | ||||
|
|
(HPO:0000577) | Exotropia | 43 / 7739 | ||||
|
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
|
(HPO:0001254) | Lethargy | 104 / 7739 | ||||
|
|
(HPO:0001270) | Motor delay | 322 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0002045) | Hypothermia | 27 / 7739 | ||||
|
|
(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
|
|
(HPO:0005949) | Apneic episodes in infancy | 5 / 7739 | ||||
|
|
(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
|
(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
|
|
(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
|
|
(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
|
(HPO:0003700) | Generalized amyotrophy | 39 / 7739 | ||||
|
|
(OMIM) | Global developmental delay if untreated | 1 / 7739 | ||||
|
|
(OMIM) | Increased urinary 2-methylbutyrylglycine | 1 / 7739 | ||||
|
|
(OMIM) | Decreased short/branched-chain acyl-CoA dehydrogenase protein levels and enzyme activity | 1 / 7739 | ||||
|
|
(OMIM) | Increased plasma 2-methylbutyrylcarnitine | 1 / 7739 | ||||
|
|
(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and ... |
| Diagnosis OMIM | Madsen et al. (2006) stated that routine tandem mass spectrometry-based newborn screening may not be sensitive enough to diagnose SBCAD deficiency, as some patients may show normal or high-normal levels of C5-acylcarnitine. |
| Clinical Description OMIM |
Andresen et al. (2000) reported a 3-year-old boy, born of consanguineous Pakistani parents, who showed increasing hypotonia and delayed motor development in the second year of life. He also had generalized muscle atrophy and strabismus. Urinary organic acid ... |
| Molecular genetics OMIM |
In a patient with 2-methylbutyryl glycinuria, Andresen et al. (2000) identified a homozygous mutation in the ACADSB gene (600301.0001). Gibson et al. (2000) described heterozygosity for a mutation in ACADSB cDNA (600301.0002) in a patient with ... |