Search

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.

We present a modified Bodian method for staining axons in teased peripheral nerves. For test material, guinea pig sciatic nerves, intact and cut in situ, were removed 3, 4 and 5 days after surgery. Notable characteristics of the stain are a strong contrast between the axon and surrounding myelin and easy detection of nodes of Ranvier. The method is suitable for the quantitative assessment of axonal degeneration.