2-Hydroxyglutaric aciduria

Top

Home > Library > Miscellaneous > Wikipedia

2-Hydroxyglutaric aciduria
Classification and external resources
Alpha-Hydroxyglutaric acid
OMIM	600721 236792
DiseasesDB	34515 34514

2-hydroxyglutaric aciduria is a rare autosomal recessive, or autosomal dominant neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid.

Contents

1 Classification
2 See also
3 References

Classification

Both forms of 2-Hydroxyglutaric aciduria have an autosomal recessive pattern of inheritance.

2-hydroxyglutaric aciduria is an organic aciduria, and because of the stereoisomeric property of 2-hydroxyglutarate different variants of this disorder are distinguished:

L-2-hydroxyglutaric aciduria

The L-2 form is more common, severe, and mainly affects the central nervous system. The basal ganglia are affected, and cystic cavitations in the white matter of the brain are common, beginning in infancy. This form is chronic, with early symptoms such as hypotonia, tremors, and epilepsy declining into spongiform leukoencephalopathy, muscular choreodystonia, mental retardation, and psychomotor regression.^[1]

It is associated with L2HGDH.^[2]

D-2-hydroxyglutaric aciduria

The D2 form is rare, with symptoms including macrocephaly, cardiomyopathy, mental retardation, hypotonia, and cortical blindness.^[3]

It can be associated with D2HGDH^[4] (type I) or IDH2^[5] (type II).

Combined D-2- and L-2-hydroxyglutaric aciduria

The combined form is characterized by severe early-onset epileptic encephalopathy and absence of developmental progress.^[6] The genetic cause is unknown.

References

^ Seijo-Martinez M, Navarro C, Castro del Rio M, Vila O, Puig M, Ribes A, Butron M (2005). "L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings". Arch Neurol. 62 (4): 666–670. doi:10.1001/archneur.62.4.666. PMID 15824270.
^ Topçu M, Jobard F, Halliez S, et al. (November 2004). "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1". Hum. Mol. Genet. 13 (22): 2803–11. doi:10.1093/hmg/ddh300. PMID 15385440. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15385440.
^ Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L (1995). "D-2-hydroxyglutaric aciduria". J Child Neurol. 10 (2): 137–142. doi:10.1177/088307389501000216. PMID 7782605.
^ Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria". Am J Hum Genet 76 (2): 358–60. doi:10.1086/427890. . PMID 15609246. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1196381.
^ Kranendijk M, Struys EA, van Schaftingen E, et al. (2010). "IDH2 mutations in patients with D-2-hydroxyglutaric aciduria". Science 330 (6002): 336. doi:10.1126/science.1192632. PMID 20847235.
^ Muntau A, Röschinger W, Merkenschlager A, van der Knaap MS,et al. (2000). "Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?". Neuropediatrics 31 (3): 137–40. doi:10.1055/s-2000-7497. PMID 10963100.

Inborn error of amino acid metabolism (E70–E72, 270)

K→acetyl-CoA

Lysine/straight chain	Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Leucine	Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · 3-Methylglutaconic aciduria 1

Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine	Sarcosinemia · D-Glyceric acidemia · Glutathione synthetase deficiency Glycine→Creatine: GAMT deficiency · Glycine encephalopathy

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia · Histidinemia · Urocanic aciduria

Proline	Hyperprolinemia · Prolidase deficiency

Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency

Methionine	Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA	Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency

G→fumarate

Phenylalanine/tyrosine

Phenylketonuria	Tetrahydrobiopterin deficiency · 6-Pyruvoyltetrahydropterin synthase deficiency

Tyrosinemia	Type II tyrosinemia · Type III tyrosinemia/Hawkinsinuria · Alkaptonuria/Ochronosis · Type I tyrosinemia

Tyrosine→Melanin	Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky–Pudlak syndrome) · Waardenburg syndrome

Tyrosine→Norepinephrine	Dopamine beta hydroxylase deficiency · reverse: Brunner syndrome

G→oxaloacetate


Urea cycle/Hyperammonemia (arginine, aspartate)	N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency · Ornithine transcarbamylase deficiency/translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia

Transport/
IE of RTT

Solute carrier family: Cystinuria · Hartnup disease · Lysinuric protein intolerance · Iminoglycinuria

Fanconi syndrome: Oculocerebrorenal syndrome · Cystinosis

Other

Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)

Donate to Wikimedia

Post a question - any question - to the WikiAnswers community:

Copyrights:

Cite

Wikipedia on Answers.com This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article 2-Hydroxyglutaric aciduria. Read

2-Hydroxyglutaric aciduria