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An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria
Acta Paediatrica, 2002This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. Conclusion: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis.
L, Nimubona +5 more
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Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.
Neuro endocrinology letters, 2010To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels ...
Ingrid, Brucknerova +6 more
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Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency
Clinica Chimica Acta, 1993K M, Gibson +5 more
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Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria
Yearbook of Pediatrics, 2009openaire +1 more source
Mevalonic aciduria and hyper‐IgD syndrome: Two sides of the same coin?
Journal of Inherited Metabolic Disease, 2001M, Tsimaratos +4 more
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