Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neo...

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Veröffentlicht in:	Molecular genetics and metabolism 2012-12, Vol.107 (4), p.756-759
Hauptverfasser:	Prasad, Chitra, Salvadori, Marina I., Rupar, C.A.
Format:	Artikel
Sprache:	eng
Schlagworte:	aciduria Autosomal recessive Edema Failure to thrive Fatal Outcome Hepatosplenomegaly Heterozygote Humans Hydrops Infant Infant, Newborn Infants Lymphadenopathy Male Mevalonate kinase Mevalonate kinase deficiency Mevalonate Kinase Deficiency - diagnosis Mevalonate Kinase Deficiency - genetics Mevalonate Kinase Deficiency - metabolism mevalonic acid Mevalonic Acid - metabolism Mutation Neonates Phenotype
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