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Summary
MEVALONIC ACIDURIA (MKD)
ACIDEMIA, MEVALONIC
610377
OMIM = Online Medalian Inheritance of Men
29
12q24.11
  • anakinra
  • cholesterol
  • coenzyme Q10
  • lipoic acid
  • vitamin C (ascorbate)
rare
autosomal recessive
mutation in the mevalonate kinase gene (MVK)
symptoms
amyloidosis
anemia
arthralgia
arthritis
ataxia
bone age, advanced
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
cholestasis
diarrhea
dysmorphism
early death
edema
failure to thrive
fever
headache (severe, recurrent or occipital, migraine)
hepatomegaly (large liver)
hypotonia
infections (local, abscesses)
infections (severe or recurrent)
mental retardation
microcephaly (<2 SD for age)
myopathy
neutropenia (decreased neutrophils)
nystagmus
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
Organic acids, plasma
Organic acids, urine
pain, abdominal
pigmentation, skin and sclera
psychomotor retardation
retinitis pigmentosa
seizures
short stature
skin rash, eczematous or seborrhoic
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Mevalonolactone1000.0056000.000.002.00mmol/mol creatinineurine
Mevalonic acid1000.0056000.000.002.00mmol/mol creatinineurine
Mevalonic acid20.00540.000.000.00-Ámol/lplasma
Mevalonate kinase18.0056.00980.001950.00pmol/(min * mg proteine)fibroblasts
Hemoglobine6.0014.0012.0015.00g/dlblood
Creatine kinase100.003000.0040.00400.00U/lserumchild
Cholesterol 1.804.50mmol/lserum
Transaminases U/lserum
Cysteinyl leukotrienes (LTE4) increasedplasma
Coenzyme Q10, Ubiquinone normal-decreasedplasma
Immunglobulin IgD plasma
Literature
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Poll-The BTet al.Mevalonic aciduria in 12 unrelated patients with hyperimmunglobulinaemia D and periodic fever syndromeJ Inherit Metab Dis230363-3662000
Mitchell GA,Yang HRemaining Challenges in the Treatment of Tyrosinemia from the Clinicians ViewpointAdv Exp Med Biol9590205-2132017
Smith IDisorders of tetrahydrobiopterin metabolismin Fernandes J, Saudubray J-M, Tada K (eds): Inborm metabolism diseases. Diagnosis and treatment. Berlin, Springer Verlag00183-1991
Bouchard Let al.Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patientsPediatr Res493326-3312001
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Mitchell GA,Yang HRemaining Challenges in the Treatment of Tyrosinemia from the Clinicians ViewpointAdv Exp Med Biol9590205-2132017
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Voutetakis A,et al.Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobeJ Clin Endocrinol Metab8952200-22062004
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Russo PA,Mitchell GA, Tanguay RMTyrosinemia: a review.Pediatr Dev Pathol43212-2212001
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 Chem2872218210-18212012
Sharma V,et al.Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic miceFASEB J2841854-18692014