Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1983-06

AUTHORS

J. Oizumi, K. N. F. Shaw, T. A. Giudici, M. Carter, G. N. Donnell, W. G. Ng

ABSTRACT

This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity, but propionyl-CoA carboxylase activity was normal. Administration of various vitamins in large amounts did not improve the clinical condition. In contrast, the patient began to thrive when her diet was supplemented with aspartic acid, asparagine, glutamic acid, and glutamine. The particular dietary treatment used and the biochemical findings merit consideration for management of future cases. More... »

PAGES

89-94

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf01800731

DOI

http://dx.doi.org/10.1007/bf01800731

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030995808

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6422151


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50 schema:description This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity, but propionyl-CoA carboxylase activity was normal. Administration of various vitamins in large amounts did not improve the clinical condition. In contrast, the patient began to thrive when her diet was supplemented with aspartic acid, asparagine, glutamic acid, and glutamine. The particular dietary treatment used and the biochemical findings merit consideration for management of future cases.
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