Mevalonic aciduria


Mevalonic aciduria

Infobox_Disease
Name = PAGENAME



Caption = A patient with mevalonic aciduria at the age of 21 months displaying the characteristic facial features.
DiseasesDB = 29843
ICD10 =
ICD9 =
ICDO =
OMIM = 251170
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D054078

Mevalonic aciduria, also called mevalonate kinase deficiency, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.

Diagnosis

Mevalonic aciduria causes an accumulation of mevalonic acid, detected in the urine, resulting from the deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). It was first described in 1985.

Classified as an inborn error of metabolism, the disorder usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, among many other manifestations, and an overall failure to thrive.

References

*cite journal |author=Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R |title=Mevalonic aciduria: an inborn error of cholesterol biosynthesis? |journal=Clin. Chim. Acta |volume=152 |issue=1-2 |pages=219–22 |year=1985 |pmid=4053401 |doi= |url=
*cite journal |author=Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N |title=Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy |journal=Pediatr. Neurol. |volume=9 |issue=3 |pages=243–6 |year=1993 |pmid=8352861 |doi= |url=

External links

* [http://www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+251170 Mevalonate kinase deficiency]
*RareDiseases|3588|Mevalonic aciduri


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