Abstract：To investigate the clinical features,laboratory examination and treatment of glutaric academia typeⅠ,the clinical data of 1 clinically-diagnosed GA1 child were analyzed retrospectively and in combination of literatures in this paper.The child was characterized by psychomotor retardation,extrapyramidal symptoms and head deformity.The test results of blood amino acid was detected by tandem mass spectrometry showed glutaric acid carnitine significantly increased and was accompanied with decreased free carnitine,suggested the existence of GA1;the test results of urinary organic acid was detected by gas chromatography-mass spectrometry showed glutaric acid significantly increased.The child was treated with supplement of Vitamin B2,L-carnitine,Baclofen for muscle tension relief and limitation of protein diet (limited intake of lysine and tryptophan).The symptoms were relieved after treatment.Some clinical manifestations,such as psychomotor retardation,extrapyramidal symptoms and head deformities,may be of guiding effectiveness for the early detection and early diagnosis of GA1.Application of gas chromatography-mass spectrometry and tandem mass spectrometry for screening of genetic metabolic diseases is helpful for the early diagnosis of inherited metabolic diseases.The treatment at the acute stage is mainly focused on symptomatic support and promotion of the excretion of toxic metabolites.The treatment at the chronic stage is mainly focused on the restricted protein diet.
郑启华. 戊二酸血症Ⅰ型1例报告并文献复习[J]. 中国当代医药, 2017, 24(24): 141-143.
ZHENG Qi-hua. One case report and literature review of glutaric academia typeⅠ. 中国当代医药, 2017, 24(24): 141-143.
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