3-hydroxyisobutyric aciduria

3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.



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Narrow down the case reports



Total: 8 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(66.3%)		 11377004
 A severely brain-damaged case of 3-hydroxyisobutyric aciduria.
Sasaki M, Iwata H, Sugai K, Fukumizu M, Kimura M, Yamaguchi S.
Brain Dev. 2001;23(4):243-5.
Long philtrum Micrognathia
Acidosis Brain Damage, Chronic Child Homo sapiens Hydroxybutyrates Inborn Errors of Metabolism Male
2
(20.4%)		 1625099
 Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
Chitayat D, Meagher-Villemure K, Mamer OA, O'Gorman A, Hoar DI, Silver K, Scriver CR.
J Pediatr. 1992;121(1):86-9.
Metabolic acidosis Congenital intracerebral calcification
Amniotic Fluid Brain Brain Diseases Calcinosis Cytogenetics DNA Fingerprinting Diseases in Twins Homo sapiens Hydroxybutyrates Inborn Errors of Metabolism Infant, Newborn Male Polymerase Chain Reaction
3
(4.0%)		 25691415
 Biochemical abnormalities in Pearson syndrome.
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N.
Am J Med Genet A. 2015;167A(3):621-8.
Failure to thrive
OTC
Amino Acids Biopsy Blood Chemical Analysis Congenital Bone Marrow Failure Syndromes Females Homo sapiens Infant Lipid Metabolism, Inborn Errors Liver Long-Chain-Acyl-CoA Dehydrogenase Male Mitochondrial Diseases Myopathy Pancreas Phenotype
3
(4.0%)		 21863277
 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD.
J Inherit Metab Dis. 2012;35(3):437-42.
Aciduria
c|SUB|C|184|T;RS#:796065046 c|SUB|C|785|A p|SUB|P|62|S;RS#:796065046 p|SUB|S|262|Y rs796065046 rs879255579
Amino Acid Metabolism, Inborn Errors DNA Mutational Analysis Females Fibroblasts Homo sapiens Homozygote Hydroxybutyrates Infant Infant, Newborn Male Missense Mutation Mutation Sequence Analysis, DNA
3
(4.0%)		 16713161
 Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria.
Sasaki M, Yamada N, Fukumizu M, Sugai K.
Brain Dev. 2006;28(9):600-3.
Choreoathetosis
Basal Ganglia Brain Injuries Child Homo sapiens Hydroxybutyrates Magnetic Resonance Imaging Male X-Ray Computed Tomography
3
(4.0%)		 16466957
 Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, Ballhausen D, Yamaguchi S, Duran M, Wanders RJ.
Mol Genet Metab. 2006;87(3):243-8.
Aciduria
HIBADH
Alcohol Oxidoreductases Child, Preschool Cultured Cells DNA DNA Mutational Analysis Genome, Human Homo sapiens Hydroxybutyrates Inborn Errors of Metabolism Male Recombinant Fusion Proteins
3
(4.0%)		 9568924
 3-Hydroxyisobutyric aciduria in two brothers.
Sasaki M, Kimura M, Sugai K, Hashimoto T, Yamaguchi S.
Pediatr Neurol. 1998;18(3):253-5.
Ketoacidosis
Child, Preschool Homo sapiens Hydroxybutyrates Infant Magnetic Resonance Imaging Male Vomiting
3
(4.0%)		 1956714
 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.
Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L.
Pediatr Res. 1991;30(4):322-6.
Failure to thrive
Amino Acid Metabolism, Inborn Errors Child Homo sapiens Hydroxybutyrates Male
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0003128 Lactic acidosis Very frequent (99-80%)
HP:0003335 obsolete Low gonadotropins (secondary hypogonadism) Very frequent (99-80%)
HP:0000325 Triangular face Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000340 Sloping forehead Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002120 Cerebral cortical atrophy Occasional (29-5%)
HP:0002514 Cerebral calcification Occasional (29-5%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001735 Acute pancreatitis 1
HP:0001994 Renal Fanconi syndrome 1
HP:0006906 Congenital intracerebral calcification 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID