Heterogenous Glycogen Storage Disease in One Family

Heterogenous Glycogen Storage Disease in One Family

Three brothers, aged 17, 14 and 4 years, with weakness, growth retardation, infantilism, obesity, hepatomegaly and osteoporosis are presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be p...

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Veröffentlicht in:Human heredity 1976, Vol.26 (3), p.217-225
Hauptverfasser: Domaniç, Nergiz, Akman, Nuran, Özand, Pinar, Müftüoglu, Asuman Ü.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Child, Preschool
Glucosidases - deficiency
Glucosyltransferases - deficiency
Glycogen Storage Disease - genetics
Glycogen Storage Disease Type I - enzymology
Glycogen Storage Disease Type I - genetics
Growth Disorders - enzymology
Growth Disorders - genetics
Hepatomegaly - enzymology
Hepatomegaly - genetics
Humans
Hypogonadism - enzymology
Hypogonadism - genetics
Male
Obesity - enzymology
Obesity - genetics
Osteoporosis - genetics
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Beschreibung
Zusammenfassung:Three brothers, aged 17, 14 and 4 years, with weakness, growth retardation, infantilism, obesity, hepatomegaly and osteoporosis are presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be performed in the youngest sibling.
ISSN:0001-5652
1423-0062
DOI:10.1159/000152806