Argininosuccinic Acidemia: A casereport

Authors

Chih-Wei Lin
Huey-Jen Lay
I-Ju Chen

Translated Title

精胺丁二酸酵素缺乏症：病例報告

Abstract

Urea cycle disorder (UCD) is one of inborn error diseases. Citrullinemia is the most common disease (1/57000) among them, followed by argininosuccinic acidemia (ASA) (1/70000). The common characteristic of UCD is hyperammonemia induced by the abnormal liver function. Common symptoms at the onset of diseases include altered consciousness, respiratory insufficiency and seizures. Developmental delay, mental retardation, cerebral palsy, and learning disability are common findings in long-term follow-ups. In this report, we give an account of a patient with ASA. Besides the aforementioned symptoms and long-term sequelae, this patient also has the problem of ataxia. However, the patient's conditions and developments improved with age as she was given a low-protein diet supplements of arginine and ornithine and early intervention of rehabilitation programs and special education.

Language

Traditional Chinese

DOI Link

https://doi.org/10.6315/2007.35(4)06

First Page

229

Last Page

233

Recommended Citation

Lin, Chih-Wei; Lay, Huey-Jen; and Chen, I-Ju (2007) "Argininosuccinic Acidemia: A casereport," Rehabilitation Practice and Science: Vol. 35: Iss. 4, Article 6.
DOI: https://doi.org/10.6315/2007.35(4)06
Available at: https://rps.researchcommons.org/journal/vol35/iss4/6