[Fanconi-Bickel syndrome].
The Fanconi-Bickel syndrome is characterized by tubular dysfunction, impaired metabolism of glucose and galactose and glycogenosis. Up to now the data of nineteen patients have been reported. In the following case firstly an abnormal body composition is described measuring the concentration of Potassium-40 with a Whole Body Radiation Counter. Before therapy an increased value of total body cell mass but no value of total body fat is measured. After therapy body weight increased while cell mass decreased and a value of fat had been observed. Concerning renal parameters a 60 fold elevation of the beta 2-microglobulin-clearance is noted.
Koch
H C
HC
Universitäts-Kinderklinik und Poliklinik Bonn.
Mallmann
R
R
D001824:Body Constitution; D003131:Combined Modality Therapy; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D005690:Galactose / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D001613:beta 2-Microglobulin / Q000652:urine
D001613:beta 2-Microglobulin; D005947:Glucose; D005690:Galactose
Fanconi-Bickel-Syndrom.