Dihydropteridine reductase deficiency in an 18-year-old boy
โ Scribed by J. H. Young; V. Walker; P. A. Tippett; B. E. Clayton; R. M. Veall
- Publisher
- Springer
- Year
- 1983
- Tongue
- English
- Weight
- 247 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
We report a 4-year-old boy with multiple sulphatase deficiency (MSD). His early health was good. By the end of his first year there were concerns about developmental delay but by 26 months he showed clear evidence of regression in that he was barely able to sit unsupported and had lost all fine moto
A 5-year-old boy is described who presented with episodes of bypoglycaemia triggered by mild infections or fever. Subnormal glucocorticoid production was confirmed by demonstrating low urinary excretion of free cortisol, low plasma cortisol concentrations that did not rise after glucagon and ACTH st