L2HGDH

L-2-hydroxyglutaric aciduria

L2HGA

A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe intellectual disability. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the L2HGDH family.

Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.

• Mitochondrion

C14orf160, L2HGDH, Duranin

• entrezGene:79944
• omim:609584
• swissprot:Q9H9P8

Proteins

50316Da