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©The Author(s) 2021.
World J Clin Cases. Jan 16, 2021; 9(2): 436-444
Published online Jan 16, 2021. doi: 10.12998/wjcc.v9.i2.436
Published online Jan 16, 2021. doi: 10.12998/wjcc.v9.i2.436
Table 1 The features of 29 patients with isovaleric acidemia reported in China
Patient No. | Ref. | Sex | Age of symptom onset | Age at diagnosis | Clinical presentation | Urine isovaleryl-glycine | IVD gene mutations | Prognosis |
1 | Zhou et al[10] | Male | 4 d | After death | Poor feeding, sweaty feet odor, thrombocytopenia, acidosis, coma, hypocalcemia | Increased | - | Died at 13 d after birth |
2 | Qiu et al[11] | Male | 3 d | 31 mo | Vomiting, acidosis, hyperglycemia, hypocalcemia | Increased | c.149G>A, c.466G>C | Intelligence and development retardation |
3 | Ren et al[12] | Female | 3 d | After death | Poor feeding, low response, acidosis, hypoglycemia, coma, shock | Increased | - | Died at 7 d after birth |
4 | Wang et al[13] | Male | 7 d | After death | Poor feeding, low response, acidosis, thrombocytopenia, anemia, lethargy | Increased | - | Died at 1 mo after birth |
5 | Wu et al[14] | Female | 7 d | 10 d | Rhinobyon, poor feeding, sweaty feet odor, coma, poor response, convulsion, hyperammonemia, thrombocytopenia | 25.73 | - | The patient showed normal growth and development after follow-up for 3 mo |
6 | Zhao et al[15] | Male | 6 d | After death | Poor response, lethargy, sweaty feet odor, thrombocytopenia, leukopenia, shock | Increased | - | Died at 12 d after birth |
7 | Teng et al[16] | Male | 3 mo | 11 yr | Poor feeding, low response, lethargy, sweaty feet odor | 1192.54 | - | Delayed development after 2.5 yr follow-up |
8 | Long et al[17] | Female | 68 d | 70 d | Poor response, sweaty feet odor, anemia, thrombocytopenia, lethargy | Increased | - | Died at 78 d after birth |
9 | Shang et al[18] | Female | 7 d | 11 d | Lethargy, rhinobyon, convulsion, hyperammonemia, hypocalcemia, thrombocytopenia, sweaty feet odor | Increased | - | After treatment for 7 d, the patient was better and was discharged, reviewed urine isovaleryl-glycine decreased to 25.12 |
10 | Shang et al[18] | Male (the older of twins) | 5 d | After death | Lethargy, sweaty feet odor, leukopenia, thrombocytopenia, poor response, coma, shock, hyperammonemia | 25.13 | - | Died at 10 d after birth |
11 | Shang et al[18] | Male (the younger of twins) | 5 d | 10 d | Lethargy, sweaty feet odor, thrombocytopenia, poor response, hyperammonemia | 25.73 | - | Leukopenia, neutropenia, thrombocytopenia and hyperammonemia after follow-up for 1 wk, reviewed urine isovaleryl-glycine was slightly elevated |
12 | Zhu et al[19] | Male | 6 d | After death | Poor feeding, poor response, lethargy, acidosis, hypocalcemia, urine ketone | Increased | - | Died at 12 d after birth |
13 | Xu et al[20] | Male | 5 d | 14 d | Poor response, poor feeding, sweaty feet odor, thrombocytopenia | 1989.67 | - | Better after treatment, sweaty feet odor disappeared |
14 | Xu et al[21] | Male | 4 d | After death | Poor feeding, poor response, sweaty feet odor, thrombocytopenia, acidosis, hypocalcemia, ecchymosis | Increased | - | Died at 13 d after birth |
15 | Xu et al[21] | Male | 4 d | After death | Lethargy, poor feeding, sweaty feet odor, acidosis, hypoxemia, thrombocytopenia, leukopenia | Increased | - | Died at 13 d after birth |
16 | Bei et al[22] | Female | 4 d | 11 d | Poor response, poor feeding, dyspnea, sweaty feet odor, shock, acidosis, hyperammonemia | 1488.78 | c.39G>A, c.597C>G | Died at 12 d after birth |
17 | Fu et al[23] | Male | 7 d | 11 d | Lethargy, sweaty feet odor, poor response, poor feeding, hyperammonemia, thrombocytopenia, leukopenia, urine ketones, urine protein | Increased | c.1016G>A | Died at 14 d after birth |
18 | Fu et al[23] | Male | 2 mo | 7 d | Hyperammonemia, sweaty feet odor | Increased | c.1016G>A | Due to timely detection and treatment, the patient’s growth and development were normal after follow-up of 2 yr |
19 | Li et al[24] | Female | 4 d | 20 mo | Vomiting, coma, thrombocytopenia, acidosis, hyperammonemia | 2535.76 | c.1193G>A, c.1208A>G | Normal development after follow-up of 3 yr |
20 | Li et al[24] | Male | 1 d | 25 d | Vomiting, poor feeding, hypothermia, coma, acidosis, hyperammonemia | 1537.94 | c.145C>T | Mild development retardation after follow-up of more than 3 yr |
21 | Li et al[24] | Female | 3 d | 4 yr | Vomiting, acidosis | 858.51 | c.611A>G, c.1183C>T | Normal development after follow-up of 10 yr |
22 | Li et al[24] | Male | 2 d | After death | Vomiting, poor feeding, coma, leukopenia, thrombocytopenia, hyperammonemia | 258.30 | c.158G>A, c.676-677insA | Died at 15 d after birth |
23 | Zhang et al[25] | Male | 6 d | After death | Tachypnea, hypothermia, leukopenia, acidosis, poor response, hypocalcemia, hyperammonemia, septicemia | Increased | - | Died at 11 d after birth |
24 | Wang et al[26] | Male | 1 d | 33 mo | Recurrent vomiting, acidosis, leukopenia, elevated urine ketones and urine acid, hypokalemia, hyponatremia, thrombocytopenia | 576.181 | - | Severe mental retardation |
25 | Tan et al[27] | Male | 1 d | 9 d | Cough, somnolent, delirious, pneumonia, sweaty feet odor, acidosis, anemia, leukopenia, thrombocytopenia, hyperglycemia | 2122.18 | c.1208A>G | Died at 16 d after birth |
26 | Mei et al[28] | Male | 5 d | 8 d | Poor response, sweaty feet odor, leukopenia, hypoglycemia, hyperammonemia, acidosis, hypocalcemia | Increased | c.1195G>C, c.466-3_466-2delinsGG | Died at 14 d after birth |
27 | Sun et al[29] | Male | 1 d | 5 d | Poor response, anemia, leukopenia, thrombocytopenia, sweaty feet odor, hyperammonemia, urinary ketones and protein, hypermyotonia | 623.4 | c.158G>A, c.1195G>C | The patient’s growth and development were normal after follow-up of 1 yr |
28 | Sun et al[29] | Female | 20 d | 3 d | Hyperammonemia | 58.73 | c.214G>T | Magnetic resonance imaging of the brain showed abnormal signals at the right parietal lobe and left thalamus at 21 mo old, intelligence retardation after follow-up of 26 mo |
29 | Sun et al[29] | Female | 1 mo | 1 mo | No obvious abnormalities were found in routine blood work, biochemistry and blood ammonia | 41.32 | - | Normal development after follow-up of 6 mo |
- Citation: Wu F, Fan SJ, Zhou XH. Neonatal isovaleric acidemia in China: A case report and review of literature. World J Clin Cases 2021; 9(2): 436-444
- URL: https://www.wjgnet.com/2307-8960/full/v9/i2/436.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v9.i2.436