Showing metabocard for Leucinic acid (MMDBc0000533)
Record Information
Version
1.0
Status
Detected and Quantified
Creation Date
2020-12-10 18:39:55 UTC
Update Date
2022-08-31 06:08:08 UTC
MiMeDB ID
MMDBc0000533
Metabolite Identification
Common Name
Leucinic acid
Description
Leucinic acid, also known as leucic acid, 2-hydroxyisocaproic acid or 2-hydroxy-4-methylvaleric acid, belongs to the class of organic compounds known as hydroxy fatty acids. These are fatty acids in which the chain bears a hydroxyl group. Leucinic acid is a valeric acid derivative having a hydroxy substituent at the 2-position and a methyl substituent at the 4-position. It is an alpha-hydroxy analogue of leucine and a metabolite of the branched-chain amino acid leucine. Leucinic acid is found in all organisms ranging from bacteria to plants to animals. Leucinic acid has been found in a patient with dihydrolipoyl dehydrogenase (DLD) deficiency (PMID: 6688766 ). DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner. A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Neurological problems are also common in this condition; the first symptoms in affected infants are often decreased muscle tone (hypotonia) and extreme tiredness (lethargy). As the problems worsen, affected infants can have difficulty feeding, decreased alertness, and seizures. Liver problems can also occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged liver (hepatomegaly) to life-threatening liver failure. In some affected people, liver disease, which can begin anytime from infancy to adulthood, is the primary symptom. Leucinic acid is also present in the urine of patients with short bowel syndrome (PMID: 4018104 )
Spaapen LJ, Ketting D, Wadman SK, Bruinvis L, Duran M: Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial origin. J Inherit Metab Dis. 1987;10(4):383-90. doi: 10.1007/BF01799981. [PubMed:3126358 ]
Haan E, Brown G, Bankier A, Mitchell D, Hunt S, Blakey J, Barnes G: Severe illness caused by the products of bacterial metabolism in a child with a short gut. Eur J Pediatr. 1985 May;144(1):63-5. doi: 10.1007/BF00491929. [PubMed:4018104 ]
Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I: Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta. 1983 Sep 30;133(2):133-40. doi: 10.1016/0009-8981(83)90398-4. [PubMed:6688766 ]
