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Brain amino acid abnormalities in pyruvate carboxylase deficiency

✍ Scribed by T. L. Perry; J. C. Haworth; B. H. Robinson


Publisher
Springer
Year
1985
Tongue
English
Weight
529 KB
Volume
8
Category
Article
ISSN
0141-8955

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Pyruvate carboxylase (PC) is a key enzyme in the gluconeogenesis and anaplerotic metabolic pathways. PC deficiency is a rare autosomal recessive disorder with three clinical presentations: an infantile form, a severe neonatal form, and a benign form. We report brother and sister sibs with the severe