Pancytopenia and metabolic decompensation in a neonate / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 1150-1153, 2016.
Article
en Zh
| WPRIM
| ID: wpr-340549
Biblioteca responsable:
WPRO
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.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Pancitopenia
/
Diagnóstico
/
Isovaleril-CoA Deshidrogenasa
/
Genética
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Errores Innatos del Metabolismo de los Aminoácidos
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2016
Tipo del documento:
Article