Argininosuccinic aciduria: A developmental and biochemical case study

An infant with argininosuccinic aciduria was detected through the routine newborn screening program for inborn metabolic diseases and has been followed for over 7 years. Treatment consisting of restricted protein intake and arginine base supplementation was initiated at the age of 8 months and was c...

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Veröffentlicht in:	Journal of the neurological sciences 1983-01, Vol.60 (2), p.217-233
Hauptverfasser:	Margalith, D., Crichton, J.U., Wong, L., Davidson, A.G.F., Applegarth, D.A., Toone, J.R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - metabolism Amino Acid Metabolism, Inborn Errors - therapy Amino Acids - blood Ammonia - metabolism Arginine - analogs & derivatives Argininosuccinic Acid - urine Blood Urea Nitrogen Child Child, Preschool Dietary Proteins - administration & dosage Female Follow-Up Studies Growth Humans
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Zusammenfassung:	An infant with argininosuccinic aciduria was detected through the routine newborn screening program for inborn metabolic diseases and has been followed for over 7 years. Treatment consisting of restricted protein intake and arginine base supplementation was initiated at the age of 8 months and was continued intermittently. She maintained normal psychomotor development to the age of 3 years and currently at the age of 7.3 years, she has measured intelligence in the borderline range. She has had mild symptoms of cerebellar ataxia. Her physical growth has been below normal. Biochemical abnormalities are described. Special metabolic investigations and the effects of treatment are discussed.
ISSN:	0022-510X 1878-5883
DOI:	10.1016/0022-510X(83)90064-3