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Infantile glycerol kinase deficiency— a condition requiring prompt identification

Clinical, biochemical, and morphological findings in two cases

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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.

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Abbreviations

AI:

adrenal insufficiency

CK:

creatine kinase

DMD:

Duchenne muscular dystrophy

GK:

glycerol kinase

GKD:

glycerol kinase deficiency

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Authors and Affiliations

  1. Universitätskinderklinik, Martinistrasse 52, D-2000, Hamburg, Federal Republic of Germany

    A. Kohlschütter & H. P. Willig

  2. Universitätskinderklinik, D-8700, Würzburg, Federal Republic of Germany

    D. Schlamp & K. Kruse

  3. Institute for Molecular Genetics, Baylor College of Medicine, Texas Medical Center, Houston, Texas, USA

    E. R. B. McCabe

  4. Abtellung für Pathologie der Universität, D-2000, Hamburg, Federal Republic of Geramny

    H. J. Schäfer & G. Beckenkamp

  5. Abteilung für Neurologie der Universität, D-8700, Würzburg, Federal Republic of Germany

    R. Rohkamm

Authors
  1. A. Kohlschütter
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  2. H. P. Willig
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  3. D. Schlamp
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  4. K. Kruse
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  5. E. R. B. McCabe
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  6. H. J. Schäfer
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  7. G. Beckenkamp
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  8. R. Rohkamm
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Kohlschütter, A., Willig, H.P., Schlamp, D. et al. Infantile glycerol kinase deficiency— a condition requiring prompt identification. Eur J Pediatr 146, 575–581 (1987). https://doi.org/10.1007/BF02467357

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  • DOI: https://doi.org/10.1007/BF02467357

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