European Journal of Pediatrics

, Volume 146, Issue 6, pp 575–581 | Cite as

Infantile glycerol kinase deficiency— a condition requiring prompt identification

Clinical, biochemical, and morphological findings in two cases
  • A. Kohlschütter
  • H. P. Willig
  • D. Schlamp
  • K. Kruse
  • E. R. B. McCabe
  • H. J. Schäfer
  • G. Beckenkamp
  • R. Rohkamm
Original Investigations

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.

Key words

Inborn errors of metabolism Glycerol kinase deficiency Adrenal failure Muscular dystrophy 

Abbreviations

AI

adrenal insufficiency

CK

creatine kinase

DMD

Duchenne muscular dystrophy

GK

glycerol kinase

GKD

glycerol kinase deficiency

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • A. Kohlschütter
    • 1
  • H. P. Willig
    • 1
  • D. Schlamp
    • 2
  • K. Kruse
    • 2
  • E. R. B. McCabe
    • 3
  • H. J. Schäfer
    • 4
  • G. Beckenkamp
    • 4
  • R. Rohkamm
    • 5
  1. 1.UniversitätskinderklinikHamburgFederal Republic of Germany
  2. 2.UniversitätskinderklinikWürzburgFederal Republic of Germany
  3. 3.Institute for Molecular Genetics, Baylor College of MedicineTexas Medical CenterHoustonUSA
  4. 4.Abtellung für Pathologie der UniversitätHamburgFederal Republic of Geramny
  5. 5.Abteilung für Neurologie der UniversitätWürzburgFederal Republic of Germany

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