Isovaleric acidemia

General Information (adopted from Orphanet):

Synonyms, Signs: IVD DEFICIENCY
IVA
isovaleric acid coa dehydrogenase deficiency
Number of Symptoms 23
OrphanetNr: 33
OMIM Id: 243500
ICD-10: E71.1
UMLs: C0268575
MeSH: C538167
MedDRA:
Snomed: 87827003

Prevalence, inheritance and age of onset:

Prevalence: 1 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Classic organic aciduria
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003108) Hyperglycinuria 11 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001259) Coma 65 / 7739
4
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
5
 (HPO:0001254) Lethargy 104 / 7739
6
 (HPO:0002013) Vomiting 191 / 7739
7
 (HPO:0011695) Cerebellar hemorrhage rare [HPO:skoehler] 6 / 7739
8
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
9
 (HPO:0001876) Pancytopenia 89 / 7739
10
 (HPO:0001873) Thrombocytopenia 224 / 7739
11
 (HPO:0001882) Leukopenia 51 / 7739
12
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
13
 (HPO:0001993) Ketoacidosis 17 / 7739
14
 (HPO:0001944) Dehydration 59 / 7739
15
 (HPO:0001942) Metabolic acidosis 81 / 7739
16
 (OMIM) Isovalerylglycinuria 1 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
18
 (OMIM) Isovalericacidemia 1 / 7739
19
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
20
 (OMIM) Isovalericaciduria 1 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Deficiency of mitochondrial isovaleryl-CoA dehydrogenase in fibroblasts 1 / 7739
23
 (OMIM) Feeding refusal, especially aversion to protein 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) In the metabolic pathways, isovaleric acidemia is closely related to maple syrup urine disease (248600).
Clinical Description OMIM Two forms of isovaleric acidemia, possibly allelic, are recognized: the acute neonatal form, leading to massive metabolic acidosis from the first days of life and rapid death (e.g., Newman et al., 1967), and a chronic form in which ...
Molecular genetics OMIM Despite the findings from complementation studies indicating the involvement of a single IVD gene in this disorder (Dubiel et al., 1983), analysis of the variant enzyme in 15 IVA fibroblast cell lines showed 5 distinct classes of variants ...