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A Case With the Infantile Type of Glycerol Kinase Deficiency
Author(s) -
Kakinuma Hiroaki,
Nakamura Fumiko,
Murayama Shjgeo,
Goto Jun,
Nakano Imaharu,
Saito Fumiko,
Ohtake Akira,
Takayanagi Masaki,
Nakajima Hironori
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb00347.x
Subject(s) - medicine , glycerol kinase , atrophy , glycerol , kinase , x chromosome , muscular dystrophy , endocrinology , pediatrics , genetics , gene , biochemistry , biology
A male infant with the infantile type of glycerol kinase deficiency is described. At six years of age, he showed proximal dominant muscle atrophy and weakness, addisonian pigmentation and mental retardation. Laboratory investigations revealed muscular dystrophy, adrenal insufficiency and glycerol kinase deficiency. He has a small deletion in a band (Xp21) of the X chromosome. The clinical, biochemical and genetic findings in this patient are reported.