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    Eur J Pediatr. 1978 Jul 19;128(4):225-33.

    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.

    PMID:
    668730
    [PubMed - indexed for MEDLINE]

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