Neonatal isovaleric acidemia in China: A case report and review of literature

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

-: The examination was not performed. IVD: Isovaleryl-CoA dehydrogenase.