Journal of Developmental Medicine(Electronic Version)  2020, Vol. 8 Issue (1): 77-80 DOI: 10.3969/j.issn.2095-5340.2020.01.014 |
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| Diagnosis, treatment and follow-up of 3 cases with neonatal isovaleric acidemia |
| SUN Meng, LI Yu-lin, ZOU Hui
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| Department of Neonatal Disease Screening Center, Jinan Maternal and Child Health Care Hospital, Shandong, Ji'nan 250001, China |
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Abstract 【Abstract】 Objective To explore the prevention and treatment of the neonatal isovaleric acidemia. Methods The clinical characteristics, follow-up results and current treatment of three neonates diagnosed with isovaleric acidemia were analyzed, and the prognosis of isovaleric acidemia was evaluated. Results After diagnosis by neonatal disease screening and standard treatment, two of the patients had normal development and stable biochemical results. The other patient's developmental level experienced a drop, since the diet control was more difficult to manage with the increase of age. Conclusions Early diagnosis of isovaleric acidemiais needed. Neonatal disease screening is an important method for early diagnosing this disease. Standardized treatment and comprehensive rehabilitation training are helpful to the prognosis of patients.
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Received: 11 November 2019
Published: 23 January 2020
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