MCID: 3HY001
MIFTS: 26

3-Hydroxyisobutyric Aciduria

Categories: Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for 3-Hydroxyisobutyric Aciduria

MalaCards integrated aliases for 3-Hydroxyisobutyric Aciduria:

Name: 3-Hydroxyisobutyric Aciduria 57 20 58 29 70
Disorder of Valine Metabolism 20
3 Hydroxyisobutyric Aciduria 73

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
3-hydroxyisobutyric aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 236795
MESH via Orphanet 45 C535312
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C0342737
Orphanet 58 ORPHA939
MedGen 41 C0342737
UMLS 70 C0342737

Summaries for 3-Hydroxyisobutyric Aciduria

GARD : 20 3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein ). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, characteristic facial features and brain abnormalities. The exact underlying cause is not well understood; however, researchers believe some cases are caused by changes ( mutations ) in the ALDH6A1 gene and inherited in an autosomal recessive manner. Because it is so rare, there is limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success.

MalaCards based summary : 3-Hydroxyisobutyric Aciduria, also known as disorder of valine metabolism, is related to organic acidemia and methylmalonate semialdehyde dehydrogenase deficiency. An important gene associated with 3-Hydroxyisobutyric Aciduria is HIBADH (3-Hydroxyisobutyrate Dehydrogenase). Affiliated tissues include cerebellum, brain and cortex, and related phenotypes are lactic acidosis and hypogonadotropic hypogonadism

Wikipedia : 73 3-Hydroxyisobutyric aciduria is a disorder of valine metabolism characterised by urinary excretion of... more...

More information from OMIM: 236795

Related Diseases for 3-Hydroxyisobutyric Aciduria

Diseases related to 3-Hydroxyisobutyric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 organic acidemia 10.3
2 methylmalonate semialdehyde dehydrogenase deficiency 10.1
3 aicardi-goutieres syndrome 10.1
4 metabolic acidosis 10.1
5 microcephaly 10.1
6 cerebral palsy 10.1
7 dystonia 10.1
8 encephalopathy 10.1

Graphical network of the top 20 diseases related to 3-Hydroxyisobutyric Aciduria:



Diseases related to 3-Hydroxyisobutyric Aciduria

Symptoms & Phenotypes for 3-Hydroxyisobutyric Aciduria

Human phenotypes related to 3-Hydroxyisobutyric Aciduria:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
2 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
3 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
4 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
5 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
6 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
7 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
8 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
9 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
10 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
11 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
12 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
13 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
14 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 failure to thrive 31 HP:0001508
18 abnormal facial shape 31 HP:0001999
19 aminoaciduria 31 HP:0003355
20 abnormality of neuronal migration 31 HP:0002269
21 low gonadotropins (secondary hypogonadism) 58 Very frequent (99-80%)
22 ketoacidosis 31 HP:0001993
23 episodic ketoacidosis 31 HP:0005974
24 congenital intracerebral calcification 31 HP:0006906

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth:
failure to thrive

Metabolic:
episodic ketoacidosis
organic acidemia
lacticacidemia

Lab:
low free carnitine
3-hydroxyisobutyric aciduria
high esterified carnitine
3-hydroxyisobutyrate dehydrogenase deficiency

H E E N T:
microcephaly
dysmorphic facies

Neuro:
congenital intracerebral calcification
migrational brain disorder

Clinical features from OMIM®:

236795 (Updated 05-Apr-2021)

Drugs & Therapeutics for 3-Hydroxyisobutyric Aciduria

Search Clinical Trials , NIH Clinical Center for 3-Hydroxyisobutyric Aciduria

Genetic Tests for 3-Hydroxyisobutyric Aciduria

Genetic tests related to 3-Hydroxyisobutyric Aciduria:

# Genetic test Affiliating Genes
1 3-Hydroxyisobutyric Aciduria 29

Anatomical Context for 3-Hydroxyisobutyric Aciduria

MalaCards organs/tissues related to 3-Hydroxyisobutyric Aciduria:

40
Cerebellum, Brain, Cortex

Publications for 3-Hydroxyisobutyric Aciduria

Articles related to 3-Hydroxyisobutyric Aciduria:

(show all 18)
# Title Authors PMID Year
1
3-Hydroxyisobutyric aciduria in two brothers. 57 61
9568924 1998
2
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. 57 61
1625099 1992
3
3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. 61 57
1956714 1991
4
MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency. 61
33552330 2021
5
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia. 61
28053874 2017
6
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 61
26026795 2015
7
Biochemical abnormalities in Pearson syndrome. 61
25691415 2015
8
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. 61
21863277 2012
9
Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report. 61
19650361 2009
10
Evidence that 3-hydroxyisobutyric acid inhibits key enzymes of energy metabolism in cerebral cortex of young rats. 61
18329219 2008
11
Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria. 61
16713161 2006
12
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. 61
16466957 2006
13
3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family. 61
11446412 2001
14
A severely brain-damaged case of 3-hydroxyisobutyric aciduria. 61
11377004 2001
15
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry. 61
10686279 2000
16
[3-Hydroxyisobutyric aciduria (3-hydroxyisobutyric acid dehydrogenase deficiency)]. 61
9590056 1998
17
3-hydroxyisobutyric aciduria with a mild clinical course. 61
7564247 1995
18
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby. 61
6790857 1981

Variations for 3-Hydroxyisobutyric Aciduria

Expression for 3-Hydroxyisobutyric Aciduria

Search GEO for disease gene expression data for 3-Hydroxyisobutyric Aciduria.

Pathways for 3-Hydroxyisobutyric Aciduria

GO Terms for 3-Hydroxyisobutyric Aciduria

Sources for 3-Hydroxyisobutyric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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