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Mevalonate kinase deficiency |
A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features.
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Classification and external resources |
OMIM |
251170 |
DiseasesDB |
29843 |
MeSH |
D054078 |
Mevalonate kinase deficiency, also called mevalonic aciduria,[1] is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.[2]
Contents
- 1 Diagnosis
- 2 Additional images
- 3 See also
- 4 External links
- 5 References
Diagnosis
Mevalonate kinase deficiency causes an accumulation of mevalonic acid in the urine, resulting from insufficient activity of the enzyme mevalonate kinase[3] (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).
The disorder was first described in 1985.[4]
Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and several other features.
Mevalonate kinase deficiency has an autosomal recessive pattern of inheritance.
Additional images
See also
External links
- Mevalonate kinase deficiency
- Mevalonic aciduria at NIH's Office of Rare Diseases
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 251170
- ^ Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (May–Jun 1993). "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243–246. doi:10.1016/0887-8994(93)90095-T. PMID 8352861.
- ^ Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678.
- ^ Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol biosynthesis?". Clin. Chim. Acta 152 (1-2): 219–222. doi:10.1016/0009-8981(85)90195-0. PMID 4053401.
Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)
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Peroxisome biogenesis disorder |
- Zellweger syndrome
- Neonatal adrenoleukodystrophy
- Infantile Refsum disease
- Adult Refsum disease-2
- RCP 1
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Enzyme-related |
- Acatalasia
- RCP 2&3
- Mevalonate kinase deficiency
- D-bifunctional protein deficiency
- Adult Refsum disease-1
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Transporter-related |
- X-linked adrenoleukodystrophy
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Lysosomal |
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See also: proteins, intermediates
Index of cells
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Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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Inborn error of steroid metabolism
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Mevalonate pathway |
- Hyper-IgD syndrome
- Mevalonate kinase deficiency
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To cholesterol |
- 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
- CHILD syndrome
- Conradi-Hünermann syndrome
- Lathosterolosis
- Smith-Lemli-Opitz syndrome
- desmosterol path: Desmosterolosis
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Steroids |
Corticosteroid
(including CAH) |
- aldosterone: Glucocorticoid remediable aldosteronism
- cortisol/cortisone: CAH 17α hydroxylase
- CAH 11β hydroxylase
- both: CAH 3β dehydrogenase
- CAH 21α hydroxylase
- Apparent mineralocorticoid excess syndrome/11β dehydrogenase
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Sex steroid |
To androgens |
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 5-alpha-reductase deficiency
- Pseudovaginal perineoscrotal hypospadias
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To estrogens |
- Aromatase deficiency
- Aromatase excess syndrome
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Other |
- X-linked ichthyosis
- Antley-Bixler syndrome
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Index of inborn errors of metabolism
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Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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Treatment |
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Index of hormones
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Description |
- Glands
- Hormones
- thyroid
- mineralocorticoids
- Physiology
- Development
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Disease |
- Diabetes
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
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Treatment |
- Procedures
- Drugs
- calcium balance
- corticosteroids
- oral hypoglycemics
- pituitary and hypothalamic
- thyroid
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UpToDate Contents
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English Journal
- Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
- Piram M, Koné-Paut I, Lachmann HJ, Frenkel J, Ozen S, Kuemmerle-Deschner J, Stojanov S, Simon A, Finetti M, Sormani MP, Martini A, Gattorno M, Ruperto N; on the behalf of EUROFEVER, EUROTRAPS and the Paediatric Rheumatology International Trials Organisation (PRINTO) networks.SourceService de Pédiatrie Générale et Rhumatologie pédiatrique, Centre de référence des maladies auto-inflammatoires de l'enfant (CeRéMAI), CHU de Bicêtre, APHP, Université Paris Sud, Le Kremlin Bicêtre, France.
- Annals of the rheumatic diseases.Ann Rheum Dis.2013 Sep 11. doi: 10.1136/annrheumdis-2013-203666. [Epub ahead of print]
- OBJECTIVES: To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-asso
- PMID 24026675
- Vaccinations in juvenile chronic inflammatory diseases: an update.
- Silva CA, Aikawa NE, Bonfa E.SourcePediatric Rheumatology Unit, Instituto da Criança, Faculty of Medicine, University of São Paulo, Avenida Dr. Eneas de Carvalho Aguiar 647, Cerqueira Cesar, São Paulo, SP 05403-000, Brazil.
- Nature reviews. Rheumatology.Nat Rev Rheumatol.2013 Sep;9(9):532-43. doi: 10.1038/nrrheum.2013.95. Epub 2013 Jul 2.
- Vaccination is a powerful tool to reduce the burden of infectious diseases in paediatric patients with chronic rheumatic diseases. Live attenuated vaccines are not recommended for profoundly immunosuppressed patients, but nonlive vaccines have adequate safety and efficacy profiles in the few (admitt
- PMID 23820860
Japanese Journal
- 高IgD症候群のMVK遺伝子異常と新しい治療法の導入
- 成戸 卓也
- 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 30(2), 86-89, 2007-04-28
- 高 IgD 症候群(HIDS;OMIM 260920)は周期的に繰り返される発熱を特徴とする遺伝性疾患群の中のひとつである.HIDSはオランダ人に多く発症し,乳幼期よりの繰り返す発熱を主訴とする疾患である.遺伝形式としては常染色体劣性遺伝をとり,その責任遺伝子はメバロン酸尿症(OMIM 251170)の原因遺伝子でもあるメバロン酸キナーゼ(MK)である.検査データでは有熱期に尿中メバロン酸排泄 …
- NAID 10019495258
- 倉垣 千恵,藤田 富雄,岡本 伸彦,中山 雅弘,木戸口 公一,末原 則幸,村田 雄二
- 日本産科婦人科學會雜誌 51(7), 464-468, 1999-07-01
- … We report a 32-year-old female with multiple abortions and two infantile deaths presumably caused by a probable carrier of an autosomal recessive disorder, mevalonic aciduria (mevalonic acidemia). … A high level of mevalonic acid detected in stored plasma from her infant led to a definite diagnosis. … Review of autopsy findings regarding two other siblings revealed that both were compatible with mevalonic aciduria. …
- NAID 110002103545
Related Links
- A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Mevalonic aciduria ... Mevalonic aciduria is the severe form of mevalonate kinase ...
- Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of ...