Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Gibson, K M

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. [electronic resource] - European journal of pediatrics Dec 1988 - 250-2 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0340-6199

10.1007/BF00441413 doi


Carboxy-Lyases--metabolism
Cells, Cultured
Cerebellar Ataxia--complications
Child
Fibroblasts--enzymology
Humans
Male
Methylmalonyl-CoA Decarboxylase
Mevalonic Acid--urine
Muscle Hypotonia--complications
Phosphotransferases--deficiency
Phosphotransferases (Alcohol Group Acceptor)