Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase. In a systematic review of known mevalonate kinase-deficient patients, the authors identified five adults with phenotypic overlap between these two syndromes, which argues for a continuous spectrum of disease. Mevalonate kinase deficiency should be considered in adult patients with fitting neurologic symptoms, with or without periodic fever attacks.
Simon
A
A
Departments of General Internal Medicine, Section of DNA Diagnostics, Laboratory for Pediatrics and Neurology, University Medical Center St. Radboud, Nijmegen, the Netherlands. a.simon@aig.umcn.nl
Kremer
H P H
HP
Wevers
R A
RA
Scheffer
H
H
De Jong
J G
JG
Van Der Meer
J W M
JW
Drenth
J P H
JP
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004789:Enzyme Activation / Q000235:genetics; D005076:Exanthema / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005334:Fever / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007072:Immunoglobulin D / Q000378:metabolism*; D007223:Infant; D008206:Lymphatic Diseases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008798:Mevalonic Acid / Q000378:metabolism / Q000652:urine; D008875:Middle Aged; D009154:Mutation; D010507:Periodicity; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics; D012008:Recurrence; D012042:Registries / Q000706:statistics & numerical data; D013577:Syndrome
D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid