title: Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
abstract: Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in blood and urine, which can be used for diagnosis. Without recognition of this condition, the chances for life-saving steroid treatment and for genetic counselling are missed. We report clinical, endocrinological, biochemical, and morphological findings in two non-related boys. One of them died in early infancy. The other is thriving at the age of 2 years although he is suffering from a myopathy not distinguishable from Duchenne muscular dystrophy. We discuss when to suspect and how to confirm the diagnosis of infantile GKD, and under what precautions the condition is detectable by commonly used screening procedures for inborn errors of metabolism.
authors.affiliation: Universitätskinderklinik, Hamburg, Federal Republic of Germany.
authors.forename: A
authors.initials: A
authors.lastname: Kohlschütter
authors.forename: H P
authors.initials: HP
authors.lastname: Willig
authors.forename: D
authors.initials: D
authors.lastname: Schlamp
authors.forename: K
authors.initials: K
authors.lastname: Kruse
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
authors.forename: H J
authors.initials: HJ
authors.lastname: Schäfer
authors.forename: G
authors.initials: G
authors.lastname: Beckenkamp
authors.forename: R
authors.initials: R
authors.lastname: Rohkamm
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital* / Q000201:enzymology / Q000473:pathology; D005990:Glycerol / Q000378:metabolism; D005991:Glycerol Kinase / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000201:enzymology; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital* / Q000201:enzymology / Q000473:pathology; D010770:Phosphotransferases / Q000172:deficiency*
chemical_list: D010770:Phosphotransferases; D005991:Glycerol Kinase; D005990:Glycerol