Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
Medicina (Kaunas)
; 55(4)2019 Apr 04.
Article
en En
| MEDLINE
| ID: mdl-30987402
ABSTRACT
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
/
3_ND
/
4_TD
/
6_ODS3_enfermedades_notrasmisibles
/
7_ODS3_muertes_prevenibles_nacidos_ninos
Problema de salud:
2_enfermedades_transmissibles
/
2_muertes_prevenibles
/
3_neglected_diseases
/
3_zoonosis
/
4_meningitis
/
6_digestive_diseases
/
6_endocrine_disorders
/
7_infections
/
7_neonatal_care_health
Asunto principal:
Infecciones Estreptocócicas
/
UTP-Hexosa-1-Fosfato Uridililtransferasa
/
Meningitis Bacterianas
/
Fallo Hepático Agudo
/
Galactosemias
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
Medicina (Kaunas)
Asunto de la revista:
MEDICINA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Rumanía