Pancytopenia and metabolic decompensation in a neonate.
- Author:
Jian-Qiang TAN
1
;
Da-Yu CHEN
;
Zhen-Qin MO
;
Zhe-Tao LI
;
Ji-Wei HUANG
;
Ren CAI
;
Ti-Zhen YAN
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China. 439078813@qq.com.
- Publication Type:Case Reports
- MeSH:
Amino Acid Metabolism, Inborn Errors;
diagnosis;
genetics;
Humans;
Infant, Newborn;
Isovaleryl-CoA Dehydrogenase;
deficiency;
genetics;
Male;
Mutation;
Pancytopenia;
etiology
- From:
Chinese Journal of Contemporary Pediatrics
2016;18(11):1150-1153
- CountryChina
- Language:Chinese
-
Abstract:
A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level. The organic acid analysis of urine by gas chromatography-mass spectrometry showed significantly increased levels in isovaleryl glycine and 3-hydroxyisovaleric acid. Homozygous mutations (c.1208A>G, p.Tyr403Cys) in the IVD gene were identified in the patient. His parents were heterozygous carriers. After the treatment with low-leucine diets and L-carnitine for 3 days, the patient showed a significant improvement in symptoms, but he died one week later. It is concluded that the neonates with pneumonia and metabolic decompensation of unknown etiology should be screened for genetic metabolic disease.
