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Titolo:
AN UNUSUAL LATE-ONSET CASE OF PROPIONIC ACIDEMIA - BIOCHEMICAL INVESTIGATIONS, NEURORADIOLOGICAL FINDINGS AND MUTATION ANALYSIS
Autore:
PEREZCERDA C; MERINERO B; MARTI M; CABRERA JC; PENA L; GARCIA MJ; GANGOITI J; SANZ P; RODRIGUEZPOMBO P; HOENICKA J; RICHARD E; MURO S; UGARTE M;
Indirizzi:
UNIV AUTONOMA MADRID,FAC CIENCIAS,DEPT MOL BIOL,CBMSO,CTR DIAGNOST ENFERMEDADES MOL E-28049 MADRID SPAIN UNIV AUTONOMA MADRID,FAC CIENCIAS,DEPT MOL BIOL,CBMSO,CTR DIAGNOST ENFERMEDADES MOL E-28049 MADRID SPAIN HOSP MATERNO INFANTIL,DEPT NEUROPAEDIAT LAS PALMAS SPAIN HOSP MATERNO INFANTIL,DEPT GASTROENTEROL LAS PALMAS SPAIN
Titolo Testata:
European journal of pediatrics
fascicolo: 1, volume: 157, anno: 1998,
pagine: 50 - 52
SICI:
0340-6199(1998)157:1<50:AULCOP>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACIDEMIA;
Keywords:
PROPIONIC ACIDEMIA; BASAL GANGLIA; PCC GENE MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
14
Recensione:
Indirizzi per estratti:
Citazione:
C. Perezcerda et al., "AN UNUSUAL LATE-ONSET CASE OF PROPIONIC ACIDEMIA - BIOCHEMICAL INVESTIGATIONS, NEURORADIOLOGICAL FINDINGS AND MUTATION ANALYSIS", European journal of pediatrics, 157(1), 1998, pp. 50-52

Abstract

We report a 5-year-old boy with propionic acidaemia who developed a rapidly fatal necrosis of the basal ganglia after an episode of clinical deterioration. Neither metabolic acidosis nor hyperammonaemia were present. Organic acid analysis in both urine and CSF showed increased levels of methylcitric and 3-hydroxypropionic acids. Propionic acidaemia was confirmed by demonstrating a propionyl-CoA carboxylase deficiency (11% of control value) in skin fibroblasts. DNA analysis revealed that the patient was a compound heterozygote for two mutations in the PCCB gene. Conclusion Propionic acidaemia can present as a sudden and fatal neurological disease and not only as an organic aciduria with severe biochemical dis-turbances and progressive neurological deterioration.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 07:47:32