Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.

Abstract:

:A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected by an increase of total serum proteins and serum albumin by about 1 g/dl during the first 5 months of treatment. There was a striking improvement in the patient's seizure disorder following institution of the keto-analogue therapy.

journal_name

Eur J Pediatr

authors

Böhles H,Heid H,Harms D,Schmid D,Fekl W

doi

10.1007/BF00445607

subject

Has Abstract

pub_date

1978-07-19 00:00:00

pages

225-33

issue

4

eissn

0340-6199

issn

1432-1076

journal_volume

128

pub_type

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