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Titolo:
BENIGN METHYLMALONIC ACIDEMIA IN A SIBSHIP WITH DISTAL RENAL TUBULAR-ACIDOSIS
Autore:
DUDLEY J; ALLEN J; TIZARD J; MCGRAW M;
Indirizzi:
SOUTHMEAD GEN HOSP,DEPT PAEDIAT BRISTOL BS10 5NB AVON ENGLAND
Titolo Testata:
Pediatric nephrology
fascicolo: 7, volume: 12, anno: 1998,
pagine: 564 - 566
SICI:
0931-041X(1998)12:7<564:BMAIAS>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOLECULAR-WEIGHT PROTEINURIA; DENTS DISEASE; NEPHROCALCINOSIS; HYPERCALCIURIA;
Keywords:
METHYLMALONIC ACIDEMIA; DISTAL RENAL TUBULAR ACIDOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
10
Recensione:
Indirizzi per estratti:
Citazione:
J. Dudley et al., "BENIGN METHYLMALONIC ACIDEMIA IN A SIBSHIP WITH DISTAL RENAL TUBULAR-ACIDOSIS", Pediatric nephrology, 12(7), 1998, pp. 564-566

Abstract

Two male infants born to consanguineous parents were investigated forfeeding difficulties in the Ist month of life. Both were found to have distal renal tubular acidosis (dRTA) with hypercalciuria. Nephrocalcinosis was present in the first child but not in the second. Urinary organic acid profile demonstrated an excess of methylmalonic acid (MMA)in both children in the absence of any other organic acid. MMA mutaseactivity and propionate incorporation were normal. There have been noneurological symptoms in either child. The first child has normal growth and psychomotor development at 4 years. His brother, who also has significant gastrooesophageal reflux, has failed to thrive and currently requires nasogastric feeding and caloric supplements to maintain weight along the 3rd percentile. Urinary and plasma MMA continue to be raised in both cases. The association of increased urinary and plasma MMA and dRTA presenting in the Ist month of life has not previously been reported and may represent a new syndrome of autosomal recessive inheritance.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 08:18:34