Case Report
Copyright ©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
Table 1 The features of 29 patients with isovaleric acidemia reported in China
Patient No.
Age of symptom onset
Age at diagnosis
Clinical presentation
Urine isovaleryl-glycine
IVD gene mutations
1Zhou et al[10]Male4 dAfter deathPoor feeding, sweaty feet odor, thrombocytopenia, acidosis, coma, hypocalcemiaIncreased -Died at 13 d after birth
2Qiu et al[11]Male3 d31 moVomiting, acidosis, hyperglycemia, hypocalcemiaIncreased c.149G>A, c.466G>CIntelligence and development retardation
3Ren et al[12]Female3 dAfter deathPoor feeding, low response, acidosis, hypoglycemia, coma, shockIncreased-Died at 7 d after birth
4Wang et al[13]Male7 dAfter deathPoor feeding, low response, acidosis, thrombocytopenia, anemia, lethargyIncreased-Died at 1 mo after birth
5Wu et al[14]Female7 d10 dRhinobyon, poor feeding, sweaty feet odor, coma, poor response, convulsion, hyperammonemia, thrombocytopenia25.73-The patient showed normal growth and development after follow-up for 3 mo
6Zhao et al[15]Male6 dAfter deathPoor response, lethargy, sweaty feet odor, thrombocytopenia, leukopenia, shockIncreased-Died at 12 d after birth
7Teng et al[16]Male3 mo11 yrPoor feeding, low response, lethargy, sweaty feet odor1192.54-Delayed development after 2.5 yr follow-up
8Long et al[17]Female68 d70 dPoor response, sweaty feet odor, anemia, thrombocytopenia, lethargyIncreased-Died at 78 d after birth
9Shang et al[18]Female7 d11 dLethargy, rhinobyon, convulsion, hyperammonemia, hypocalcemia, thrombocytopenia, sweaty feet odorIncreased-After treatment for 7 d, the patient was better and was discharged, reviewed urine isovaleryl-glycine decreased to 25.12
10Shang et al[18]Male (the older of twins)5 dAfter deathLethargy, sweaty feet odor, leukopenia, thrombocytopenia, poor response, coma, shock, hyperammonemia25.13-Died at 10 d after birth
11Shang et al[18]Male (the younger of twins)5 d10 dLethargy, sweaty feet odor, thrombocytopenia, poor response, hyperammonemia25.73-Leukopenia, neutropenia, thrombocytopenia and hyperammonemia after follow-up for 1 wk, reviewed urine isovaleryl-glycine was slightly elevated
12Zhu et al[19]Male6 dAfter deathPoor feeding, poor response, lethargy, acidosis, hypocalcemia, urine ketoneIncreased-Died at 12 d after birth
13Xu et al[20]Male5 d14 dPoor response, poor feeding, sweaty feet odor, thrombocytopenia1989.67-Better after treatment, sweaty feet odor disappeared
14Xu et al[21]Male4 dAfter deathPoor feeding, poor response, sweaty feet odor, thrombocytopenia, acidosis, hypocalcemia, ecchymosisIncreased-Died at 13 d after birth
15Xu et al[21]Male4 dAfter deathLethargy, poor feeding, sweaty feet odor, acidosis, hypoxemia, thrombocytopenia, leukopeniaIncreased-Died at 13 d after birth
16Bei et al[22]Female4 d11 dPoor response, poor feeding, dyspnea, sweaty feet odor, shock, acidosis, hyperammonemia1488.78c.39G>A, c.597C>GDied at 12 d after birth
17Fu et al[23]Male7 d11 dLethargy, sweaty feet odor, poor response, poor feeding, hyperammonemia, thrombocytopenia, leukopenia, urine ketones, urine proteinIncreasedc.1016G>ADied at 14 d after birth
18Fu et al[23]Male2 mo7 dHyperammonemia, sweaty feet odorIncreasedc.1016G>ADue to timely detection and treatment, the patient’s growth and development were normal after follow-up of 2 yr
19Li et al[24]Female4 d20 moVomiting, coma, thrombocytopenia, acidosis, hyperammonemia2535.76c.1193G>A, c.1208A>GNormal development after follow-up of 3 yr
20Li et al[24]Male1 d25 dVomiting, poor feeding, hypothermia, coma, acidosis, hyperammonemia1537.94c.145C>TMild development retardation after follow-up of more than 3 yr
21Li et al[24]Female3 d4 yrVomiting, acidosis858.51c.611A>G, c.1183C>TNormal development after follow-up of 10 yr
22Li et al[24]Male2 dAfter deathVomiting, poor feeding, coma, leukopenia, thrombocytopenia, hyperammonemia258.30c.158G>A, c.676-677insADied at 15 d after birth
23Zhang et al[25]Male6 dAfter deathTachypnea, hypothermia, leukopenia, acidosis, poor response, hypocalcemia, hyperammonemia, septicemiaIncreased-Died at 11 d after birth
24Wang et al[26]Male1 d33 moRecurrent vomiting, acidosis, leukopenia, elevated urine ketones and urine acid, hypokalemia, hyponatremia, thrombocytopenia576.181-Severe mental retardation
25Tan et al[27]Male1 d9 dCough, somnolent, delirious, pneumonia, sweaty feet odor, acidosis, anemia, leukopenia, thrombocytopenia, hyperglycemia2122.18c.1208A>GDied at 16 d after birth
26Mei et al[28]Male5 d8 dPoor response, sweaty feet odor, leukopenia, hypoglycemia, hyperammonemia, acidosis, hypocalcemiaIncreasedc.1195G>C, c.466-3_466-2delinsGGDied at 14 d after birth
27Sun et al[29]Male1 d5 dPoor response, anemia, leukopenia, thrombocytopenia, sweaty feet odor, hyperammonemia, urinary ketones and protein, hypermyotonia623.4c.158G>A, c.1195G>CThe patient’s growth and development were normal after follow-up of 1 yr
28Sun et al[29]Female20 d3 dHyperammonemia58.73c.214G>TMagnetic 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
29Sun et al[29]Female1 mo1 moNo obvious abnormalities were found in routine blood work, biochemistry and blood ammonia41.32-Normal development after follow-up of 6 mo