Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1179-1180

  Bain, M D ^a   Till, J ^b   Jones, M G ^a   Besley, G T N ^b   Lee, P ^c   Oliveira, D ^a   Chalmers, R A ^a,d  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d ROYAL VETERINARY COLLEGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; ANTICONVULSIVE AGENT; BICARBONATE; CARNITINE; ENALAPRIL; ERYTHROPOIETIN; FERROUS SULFATE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ADULT; ARTICLE; CALCIUM BALANCE; CASE REPORT; CREATININE CLEARANCE; ENZYME DEFICIENCY; ENZYMOLOGY; FEMALE; FOLLOW UP; HEMODIALYSIS; HUMAN; HYPONATREMIA; KIDNEY DISEASE; KIDNEY DYSFUNCTION; METABOLIC DISORDER; METHYLMALONIC ACIDURIA; METHYLMALONYL COENZYME A APOMUTASE DEFICIENCY; SECONDARY HYPERPARATHYROIDISM; SEIZURE; THYROIDECTOMY;

ADULT; BIOPSY; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; HUMANS; KIDNEY DISEASES; METABOLISM, INBORN ERRORS; METHYLMALONYL-COA MUTASE; RENAL DIALYSIS; SKIN; TREATMENT OUTCOME;

EID: 31644447886     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0244-1     Document Type: Article

References (1)

1. Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 42: 492-504.