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{{Infobox medical condition (new)
{{Infobox medical condition (new)
| name = {{PAGENAME}}
| name = 3 hydroxyisobutyric aciduria
| synonyms = Disorder of valine metabolism
| image = 3-Hydroxyisobutyric acid.png
| caption = Chemical structure of [[3-hydroxyisobutyric acid]].
| image = File:Autosomal recessive - en.svg
| image_size = 140px
| field = [[Endocrinology]]
| alt =
| pronounce =
| symptoms = Small triangular face, low-set ears, a long [[philtrum]], and [[microcephaly]].
| caption = This condition is inherited in an autosomal recessive manner
| pronounce =
| complications =
| field =
| onset = Prenatal period.
| symptoms =
| duration =
| complications =
| causes =
| onset =
| risks =
| diagnosis = Elevated amounts of [[3-Hydroxyisobutyric acid]] in urine
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| types =
| differential =
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| prevention =
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'''3-Hydroxyisobutyric aciduria''' is a disorder of [[valine]] [[metabolism]] characterised by urinary excretion of [[3-Hydroxyisobutyric acid]].

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==References==
* {{OMIM|236795}}



'''3 Hydroxyisobutyric aciduria''' is a rare [[metabolic disorder]] in which the body is unable to metabolize certain [[Amino acid|amino acids]]. This causes a toxic buildup of specific acids called [[Organic acid|organic acids]] in the blood, tissues, and urine. The precise underlying cause remains unknown. Some cases may be caused by mutations in the [[ALDH6A1]] gene and inherited autosomally recessively.<ref name="GARD">{{cite web | title=3-hydroxyisobutyric aciduria | website=Genetic and Rare Diseases Information Center | date=January 8, 2021 |url=https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria | access-date=November 8, 2023}}</ref>


Clinical manifestations range from a mild or uneventful course to life-threatening [[ketoacidosis]].<ref name="Sass Walter Shield Atherton 2011 pp. 437–442">{{cite journal | last=Sass | first=Jörn Oliver | last2=Walter | first2=Melanie | last3=Shield | first3=Julian P. H. | last4=Atherton | first4=Andrea M. | last5=Garg | first5=Uttam | last6=Scott | first6=David | last7=Woods | first7=C. Geoffrey | last8=Smith | first8=Laurie D. | title=3‐Hydroxyisobutyrate aciduria and mutations in the ''ALDH6A1'' gene coding for methylmalonate semialdehyde dehydrogenase | journal=Journal of Inherited Metabolic Disease | publisher=Wiley | volume=35 | issue=3 | date=August 24, 2011 |url=https://link.springer.com/article/10.1007/s10545-011-9381-x | issn=0141-8955 | doi=10.1007/s10545-011-9381-x | pages=437–442| access-date= November 8, 2023}}</ref> Only ten patients had been described in publications as of 2006.<ref name="Loupatty van der Steen IJlst Ruiter 2006 pp. 243–248">{{cite journal | last=Loupatty | first=Ference J. | last2=van der Steen | first2=Annemarie | last3=IJlst | first3=Lodewijk | last4=Ruiter | first4=Jos P.N. | last5=Ofman | first5=Rob | last6=Baumgartner | first6=Matthias R. | last7=Ballhausen | first7=Diana | last8=Yamaguchi | first8=Seiji | last9=Duran | first9=Marinus | last10=Wanders | first10=Ronald J.A. | title=Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria | journal=Molecular Genetics and Metabolism | publisher=Elsevier BV | volume=87 | issue=3 | year=2006 |url=https://www.sciencedirect.com/science/article/abs/pii/S1096719205003148?via%3Dihub | issn=1096-7192 | doi=10.1016/j.ymgme.2005.09.019 | pages=243–248| access-date= November 8, 2023}}</ref>


== Signs and symptoms ==
3-Hydroxyisobutyric aciduria typically presents during the prenatal period.<ref name="Chitayat Meagher-Villemure Mamer OGorman 1992 pp. 86–89">{{cite journal | last=Chitayat | first=David | last2=Meagher-Villemure | first2=Kathleen | last3=Mamer | first3=Orval A. | last4=O'Gorman | first4=Augustin | last5=Hoar | first5=David I. | last6=Silver | first6=Kenneth | last7=Scriver | first7=Charles R. | title=Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria | journal=The Journal of Pediatrics | publisher=Elsevier BV | volume=121 | issue=1 | year=1992 |url=https://www.jpeds.com/article/S0022-3476(05)82549-1/pdf | issn=0022-3476 | doi=10.1016/s0022-3476(05)82549-1 | pages=86–89| access-date= November 8, 2023}}</ref> These patients typically have [[Dysmorphic feature|dysmorphic]] characteristics such as a small triangular face, low-set ears, a long [[philtrum]], and [[microcephaly]]. Individuals may exhibit a wide range of phenotypes, from mild episodes of [[vomiting]] accompanied by normal brain and cognitive development to severe [[Intellectual disability|mental impairment]], delayed motor development, and early death.<ref name="Loupatty van der Steen IJlst Ruiter 2006 pp. 243–248"/>


== Causes ==
It was previously assumed that [[3-hydroxyisobutyrate dehydrogenase]] (HIBADH) deficiency in the valine catabolic pathway was the underlying enzyme defect, but new evidence suggests that individuals with 3-hydroxyisobutyryic aciduria represent a heterogeneous group that has various underlying mechanisms, such as respiratory chain defects or [[Methylmalonate-semialdehyde dehydrogenase (acylating)|methylmalonate semialdehyde dehydrogenase]] deficiency.<ref name="Sass Walter Shield Atherton 2011 pp. 437–442"/>


== Diagnosis ==
When in stable condition, patients with 3-Hydroxyisobutyric aciduria excrete elevated amounts of [[3-Hydroxyisobutyric acid]] (3-HIBA) in urine, ranging from 60 to 390 mmol/mol of [[creatinine]] and increasing to 10,000 mmol/mol creatinine during acute [[ketoacidosis]] episodes.<ref name="Loupatty van der Steen IJlst Ruiter 2006 pp. 243–248"/>


== Treatment ==
There is limited evidence and no agreement on treatment; protein restriction and [[carnitine]] supplementation have been used.<ref name="Sass Walter Shield Atherton 2011 pp. 437–442"/>


== See also ==
* [[Lactic acidosis]]
* [[3-Hydroxyisobutyric acid]]


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== References ==
{{Reflist|}}


== External links ==
== External links ==
{{Medical resources
{{Medical resources
| ICD10 = E71.1
| ICD11 = {{ICD11|5C50.E0}}
| ICD9 = <!--{{ICD9|xxx}}-->
| ICD10 = {{ICD10|E71.1}}
| ICDO =
| ICD10CM = <!-- {{ICD10CM|Xxx.xxxx}} -->
| OMIM = 236795
| ICD9 = <!-- {{ICD9|xxx}} -->
| DiseasesDB =
| ICDO =
| MedlinePlus =
| OMIM = 236795
| MeshID = C535312
| eMedicineSubj =
| DiseasesDB = 34226
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| eMedicineTopic =
| MeSH = C535312
| SNOMED CT = 237957007
| GeneReviewsNBK =
| Curlie =
| MedlinePlus =
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| GeneReviewsName =
| Orphanet = 939
| eMedicineSubj =
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| eMedicineTopic =
| PatientUK =
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| GeneReviewsNBK =
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| GeneReviewsName =
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| NORD =
| GARDNum = 5662
| GARDName = 3-hydroxyisobutyric aciduria
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| RP =
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| AO =
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| WO =
| OrthoInfo =
| Orphanet = 939
| Scholia = Q4636563
| OB =
}}
}}

[[Category:Inborn errors of metabolism]]
[[Category:Inborn errors of metabolism]]

{{endocrine-disease-stub}}

Revision as of 04:29, 9 November 2023

3 hydroxyisobutyric aciduria
Chemical structure of 3-hydroxyisobutyric acid.
SpecialtyEndocrinology
SymptomsSmall triangular face, low-set ears, a long philtrum, and microcephaly.
Usual onsetPrenatal period.
Diagnostic methodElevated amounts of 3-Hydroxyisobutyric acid in urine

3 Hydroxyisobutyric aciduria is a rare metabolic disorder in which the body is unable to metabolize certain amino acids. This causes a toxic buildup of specific acids called organic acids in the blood, tissues, and urine. The precise underlying cause remains unknown. Some cases may be caused by mutations in the ALDH6A1 gene and inherited autosomally recessively.[1]

Clinical manifestations range from a mild or uneventful course to life-threatening ketoacidosis.[2] Only ten patients had been described in publications as of 2006.[3]

Signs and symptoms

3-Hydroxyisobutyric aciduria typically presents during the prenatal period.[4] These patients typically have dysmorphic characteristics such as a small triangular face, low-set ears, a long philtrum, and microcephaly. Individuals may exhibit a wide range of phenotypes, from mild episodes of vomiting accompanied by normal brain and cognitive development to severe mental impairment, delayed motor development, and early death.[3]

Causes

It was previously assumed that 3-hydroxyisobutyrate dehydrogenase (HIBADH) deficiency in the valine catabolic pathway was the underlying enzyme defect, but new evidence suggests that individuals with 3-hydroxyisobutyryic aciduria represent a heterogeneous group that has various underlying mechanisms, such as respiratory chain defects or methylmalonate semialdehyde dehydrogenase deficiency.[2]

Diagnosis

When in stable condition, patients with 3-Hydroxyisobutyric aciduria excrete elevated amounts of 3-Hydroxyisobutyric acid (3-HIBA) in urine, ranging from 60 to 390 mmol/mol of creatinine and increasing to 10,000 mmol/mol creatinine during acute ketoacidosis episodes.[3]

Treatment

There is limited evidence and no agreement on treatment; protein restriction and carnitine supplementation have been used.[2]

See also

References

  1. ^ "3-hydroxyisobutyric aciduria". Genetic and Rare Diseases Information Center. January 8, 2021. Retrieved November 8, 2023.
  2. ^ a b c Sass, Jörn Oliver; Walter, Melanie; Shield, Julian P. H.; Atherton, Andrea M.; Garg, Uttam; Scott, David; Woods, C. Geoffrey; Smith, Laurie D. (August 24, 2011). "3‐Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase". Journal of Inherited Metabolic Disease. 35 (3). Wiley: 437–442. doi:10.1007/s10545-011-9381-x. ISSN 0141-8955. Retrieved November 8, 2023.
  3. ^ a b c Loupatty, Ference J.; van der Steen, Annemarie; IJlst, Lodewijk; Ruiter, Jos P.N.; Ofman, Rob; Baumgartner, Matthias R.; Ballhausen, Diana; Yamaguchi, Seiji; Duran, Marinus; Wanders, Ronald J.A. (2006). "Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria". Molecular Genetics and Metabolism. 87 (3). Elsevier BV: 243–248. doi:10.1016/j.ymgme.2005.09.019. ISSN 1096-7192. Retrieved November 8, 2023.
  4. ^ Chitayat, David; Meagher-Villemure, Kathleen; Mamer, Orval A.; O'Gorman, Augustin; Hoar, David I.; Silver, Kenneth; Scriver, Charles R. (1992). "Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria". The Journal of Pediatrics. 121 (1). Elsevier BV: 86–89. doi:10.1016/s0022-3476(05)82549-1. ISSN 0022-3476. Retrieved November 8, 2023.
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