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Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
J Pediatr Endocrinol Metab. 2015 Mar; 28(3-4):375-80.JP

Abstract

BACKGROUND

Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China.

METHOD

From January 2009 to March 2012, 16,075 urine samples were collected from patients who were highly suspected of having IEM in Guangzhou Women and Children's Medical Center. The specimens were evaluated using GC-MS.

RESULTS

We diagnosed 303 cases of IEM by urine GC-MS analysis, including 197 cases with amino acid disorders, 86 cases with organic acidurias (OAs), 10 cases with fatty acid oxidative (FAO) disorders, and 10 cases with peroxisomal disorders. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was the most common (153 cases), followed by methylmalonic aciduria (48 cases), urea cycle disorders (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), X-linked adrenoleukodystrophy (10 cases), multiple carboxylase deficiency (8 cases), glutaric aciduria type I (7 cases), isovaleric aciduria (6 cases), glutaric aciduria type II (4 cases), short-chain acyl-CoA dehydrogenase deficiency (4 cases), 3-hydroxy-3-methylglutaric aciduria (3 cases), maple syrup urine disease (2 cases), very long-chain acyl-CoA dehydrogenase deficiency (1 case), malonic aciduria (1 case), mevalonic aciduria (1 case), Canavan disease (1 case), lysine protein intolerance (1 case), and medium-chain acyl-CoA dehydrogenase deficiency (1 case). The clinical and laboratory features of IEM are neurologic signs, jaundice, metabolic acidosis, ketotic hypoglycemia, and hyperammonemia.

CONCLUSION

In our study, GC-MS provided a diagnostic clue to OAs, amino acid disorders, FAO, and peroxisomal disorders. Urease pretreatment is useful for the diagnosis of NICCD. In southern China, the majority of IEM were amino acid disorders and organic acid disorders. FAO disorders were relatively rare, which we need to investigate further.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

25781538

Citation

Jiang, MinYan, et al. "Detection of Inborn Errors of Metabolism Using GC-MS: Over 3 Years of Experience in Southern China." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 28, no. 3-4, 2015, pp. 375-80.
Jiang M, Liu L, Mei H, et al. Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. J Pediatr Endocrinol Metab. 2015;28(3-4):375-80.
Jiang, M., Liu, L., Mei, H., Li, X., Cheng, J., & Cai, Y. (2015). Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. Journal of Pediatric Endocrinology & Metabolism : JPEM, 28(3-4), 375-80. https://doi.org/10.1515/jpem-2014-0164
Jiang M, et al. Detection of Inborn Errors of Metabolism Using GC-MS: Over 3 Years of Experience in Southern China. J Pediatr Endocrinol Metab. 2015;28(3-4):375-80. PubMed PMID: 25781538.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. AU - Jiang,MinYan, AU - Liu,Li, AU - Mei,HuiFen, AU - Li,XiuZhen, AU - Cheng,Jing, AU - Cai,YanNa, PY - 2014/04/14/received PY - 2014/09/22/accepted PY - 2015/3/18/entrez PY - 2015/3/18/pubmed PY - 2016/3/25/medline SP - 375 EP - 80 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 28 IS - 3-4 N2 - BACKGROUND: Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China. METHOD: From January 2009 to March 2012, 16,075 urine samples were collected from patients who were highly suspected of having IEM in Guangzhou Women and Children's Medical Center. The specimens were evaluated using GC-MS. RESULTS: We diagnosed 303 cases of IEM by urine GC-MS analysis, including 197 cases with amino acid disorders, 86 cases with organic acidurias (OAs), 10 cases with fatty acid oxidative (FAO) disorders, and 10 cases with peroxisomal disorders. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was the most common (153 cases), followed by methylmalonic aciduria (48 cases), urea cycle disorders (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), X-linked adrenoleukodystrophy (10 cases), multiple carboxylase deficiency (8 cases), glutaric aciduria type I (7 cases), isovaleric aciduria (6 cases), glutaric aciduria type II (4 cases), short-chain acyl-CoA dehydrogenase deficiency (4 cases), 3-hydroxy-3-methylglutaric aciduria (3 cases), maple syrup urine disease (2 cases), very long-chain acyl-CoA dehydrogenase deficiency (1 case), malonic aciduria (1 case), mevalonic aciduria (1 case), Canavan disease (1 case), lysine protein intolerance (1 case), and medium-chain acyl-CoA dehydrogenase deficiency (1 case). The clinical and laboratory features of IEM are neurologic signs, jaundice, metabolic acidosis, ketotic hypoglycemia, and hyperammonemia. CONCLUSION: In our study, GC-MS provided a diagnostic clue to OAs, amino acid disorders, FAO, and peroxisomal disorders. Urease pretreatment is useful for the diagnosis of NICCD. In southern China, the majority of IEM were amino acid disorders and organic acid disorders. FAO disorders were relatively rare, which we need to investigate further. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/25781538/Detection_of_inborn_errors_of_metabolism_using_GC_MS:_over_3_years_of_experience_in_southern_China_ L2 - https://www.degruyter.com/doi/10.1515/jpem-2014-0164 DB - PRIME DP - Unbound Medicine ER -