MCID: 3HY001
MIFTS: 25

3-Hydroxyisobutyric Aciduria

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for 3-Hydroxyisobutyric Aciduria

MalaCards integrated aliases for 3-Hydroxyisobutyric Aciduria:

Name: 3-Hydroxyisobutyric Aciduria 57 53 59 29 73
Disorder of Valine Metabolism 53
3 Hydroxyisobutyric Aciduria 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
3-hydroxyisobutyric aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 236795
Orphanet 59 ORPHA939
MESH via Orphanet 45 C535312
UMLS via Orphanet 74 C0342737
ICD10 via Orphanet 34 E71.1
MedGen 42 C0342737
UMLS 73 C0342737

Summaries for 3-Hydroxyisobutyric Aciduria

NIH Rare Diseases : 53 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, is also known as disorder of valine metabolism. An important gene associated with 3-Hydroxyisobutyric Aciduria is HIBADH (3-Hydroxyisobutyrate Dehydrogenase). Affiliated tissues include brain and cerebellum, and related phenotypes are seizures and cerebral calcification

Wikipedia : 76 3-Hydroxyisobutyric aciduria is a disorder of valine metabolism characterised by urinary excretion of... more...

Description from OMIM: 236795

Related Diseases for 3-Hydroxyisobutyric Aciduria

Symptoms & Phenotypes for 3-Hydroxyisobutyric Aciduria

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

Metabolic:
episodic ketoacidosis
organic acidemia
lacticacidemia

Neuro:
migrational brain disorder
congenital intracerebral calcification

HEENT:
microcephaly
dysmorphic facies

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


Clinical features from OMIM:

236795

Human phenotypes related to 3-Hydroxyisobutyric Aciduria:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
3 microtia 59 32 frequent (33%) Frequent (79-30%) HP:0008551
4 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
5 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
6 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
7 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
8 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
9 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
10 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
11 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
12 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
13 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
14 sloping forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000340
15 failure to thrive 32 HP:0001508
16 abnormal facial shape 32 HP:0001999
17 aminoaciduria 32 HP:0003355
18 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044
19 abnormality of neuronal migration 32 HP:0002269
20 low gonadotropins (secondary hypogonadism) 59 Very frequent (99-80%)
21 ketoacidosis 32 HP:0001993
22 episodic ketoacidosis 32 HP:0005974
23 congenital intracerebral calcification 32 HP:0006906

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:

41
Brain, Cerebellum

Publications for 3-Hydroxyisobutyric Aciduria

Articles related to 3-Hydroxyisobutyric Aciduria:

(show all 11)
# Title Authors Year
1
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. ( 21863277 )
2012
2
Neuropathology of 3-hydroxyisobutyric aciduria, an autopsy case report. ( 19650361 )
2009
3
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. ( 16466957 )
2006
4
Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria. ( 16713161 )
2006
5
A severely brain-damaged case of 3-hydroxyisobutyric aciduria. ( 11377004 )
2001
6
3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family. ( 11446412 )
2001
7
3-Hydroxyisobutyric aciduria in two brothers. ( 9568924 )
1998
8
3-hydroxyisobutyric aciduria with a mild clinical course. ( 7564247 )
1995
9
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. ( 1625099 )
1992
10
3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. ( 1956714 )
1991
11
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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42 MedGen
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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