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Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally

✍ Scribed by M. J. Bennett; D. A. Curnock; P. C. Engel; L. Shaw; R. G. F. Gray; D. Hull; A. D. Patrick; R. J. Pollitt


Publisher
Springer
Year
1984
Tongue
English
Weight
743 KB
Volume
7
Category
Article
ISSN
0141-8955

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Glutaric aciduria type II: treatment wit
✍ P. D. Mooy; H. Przyrembel; M. A. H. Giesberts; H. R. Scholte; W. Blom; H. H. Gel πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 484 KB

A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given. Treatment with riboflavine resulted in a