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Summary

Disease	MEVALONIC ACIDURIA
Synonym	ACIDEMIA, MEVALONIC
OMIM	610377 OMIM = Online Medalian Inheritance of Men
Orphanet	29
Gene locus	12q24.11
Treatment	anakinra cholesterol coenzyme Q10 lipoic acid vitamin C (ascorbate)
Summary	rare autosomal recessive mutation in the mevalonate kinase gene (MVK)

symptoms

anemia

arthralgia

ataxia

bone age, advanced

cataract

cerebellar atrophy or hypoplasia

cerebral atrophy

cholestasis

diarrhea

dysmorphism

early death

edema

failure to thrive

fever

hepatomegaly (large liver)

hypotonia

infections (severe or recurrent)

mental retardation

microcephaly (<2 SD for age)

myopathy

nystagmus

onset, fetus

onset, neonatal

Organic acids, plasma

Organic acids, urine

pigmentation, skin and sclera

psychomotor retardation

retinitis pigmentosa

seizures

short stature

skin rash, eczematous or seborrhoic

splenomegaly (large spleen)

thrombopenia, thrombocytopenia

vomiting

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Mevalonolactone	1000.00	56000.00	0.00	2.00	mmol/mol creatinine	urine
Mevalonic acid	1000.00	56000.00	0.00	2.00	mmol/mol creatinine	urine
Mevalonic acid	20.00	540.00	0.00	0.00	-Ámol/l	plasma
Mevalonate kinase	18.00	56.00	980.00	1950.00	pmol/(min * mg proteine)	fibroblasts
Hemoglobine	6.00	14.00	12.00	15.00	g/dl	blood
Creatine kinase	100.00	3000.00	40.00	400.00	U/l	serum
Cholesterol			1.80	4.50	normal/decreased	serum
Transaminases					increased	serum
Cysteinyl leukotrienes (LTE4)					increased	plasma
Coenzyme Q10, Ubiquinone					normal-decreased	plasma

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
van den Berghe G		Disorders of purine and pyrimidine metabolism	in Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag		0	0	455-474	1990
Fenton WA	Rosenberg LE	Inherited disorders of cobalamin transport and metabolism	The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.		2	0	3129-3249	1995
Poll-The BT	et al.	Mevalonic aciduria in 12 unrelated patients with hyperimmunglobulinaemia D and periodic fever syndrome	J Inherit Metab Dis		23	0	363-366	2000
Smith I		Disorders of tetrahydrobiopterin metabolism	in Fernandes J, Saudubray J-M, Tada K (eds): Inborm metabolism diseases. Diagnosis and treatment. Berlin, Springer Verlag		0	0	183-	1991
Bouchard L	et al.	Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients	Pediatr Res		49	3	326-331	2001
Slocum RH	Cummings, J.G.	Amino Acid Analysis of Physiological Samples	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	87-125	1991
Drenth JP	et al.	Identification of the gene for hyper-IgD syndrome: a model of modern genetics Article in Dutch	Ned Tijdschr Geneeskd		144	0	782-785	2000
Ichikawa M,	et al.	The metabolic origins of mannose in glycoproteins	J Biol Chem		289	10	6751-6761	2014
Zannolli R	et al.	Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects	J Med Genet		40	11	121	2003
Meissner T	Mayatepek E	Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy	J Inherit Metab Dis		20	0	717-718	1997
Guneral F	Bachmann C	Age-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric Population	Clin Chem		40	6	862-868	1994
He P,	et al.	Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells.	J Biol Chem		287	22	18210-1821	2012
Sharma V,	et al.	Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice	FASEB J		28	4	1854-1869	2014