Phenylalanine-tyrosine deficiency syndrome as a complication of the management of hereditary tyrosinemia

A male infant with type I hereditary tyrosinemia developed a phenylalanine-tyrosine deficiency syndrome after receiving a synthetic diet which was low in these amino acids. The syndrome was characterized by growth failure, anorexia, lethargy, and hypotonia. Hypophenylalaninemia and hypotyrosinemia w...

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Bibliographic Details
Published inThe American journal of clinical nutrition Vol. 30; no. 2; pp. 209 - 214
Main Authors Cohn, RM, Yudkoff, M, Yost, B, Segal, S
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.02.1977
Subjects
Amino Acid Metabolism, Inborn Errors - diet therapy
Amino Acids - blood
Humans
Infant
Liver Cirrhosis - pathology
Male
Phenylalanine - deficiency
Tyrosine - blood
Tyrosine - deficiency
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Summary:A male infant with type I hereditary tyrosinemia developed a phenylalanine-tyrosine deficiency syndrome after receiving a synthetic diet which was low in these amino acids. The syndrome was characterized by growth failure, anorexia, lethargy, and hypotonia. Hypophenylalaninemia and hypotyrosinemia were discovered. The blood concentrations of most other amino acids were increased. Supplementation of the patient's diet with phenylalanine and tyrosine resulted in a prompt and dramatic reversal of both clinical and biochemical abnormalities. Dietary therapy had no effect on the child's hepatic cirrhosis.
Bibliography:S30
S
ObjectType-Case Study-3
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-2
ISSN:0002-9165
1938-3207
DOI:10.1093/ajcn/30.2.209