Document Detail

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
MedLine Citation:
PMID:  9266389     Owner:  NLM     Status:  MEDLINE    
The clbC form of methylmalonic acidaemia is a rare and poorly understood condition which results from impaired biosynthesis of methylcobalamin and adenosylcobalamin. The consequent functional deficiencies of methylmalonyl-CoA mutase and methionine synthase produce both methylmalonic aciduria and homocystinuria. Systemic symptoms and neurological decompensation comprise the clinical phenotype. In an effort to clarify the phenotype and prognosis, we obtained clinical information on 50 patients with methylmalonic acidaemia whose cells had been assigned to the cblC complementation group. We identified two distinct phenotypes; they differed in age of onset, presence of systemic symptoms, type of neurological symptoms, and outcome after diagnosis and treatment. Forty-four patients presented in the first year of life. Feeding difficulties, neurological dysfunction (hypotonia, seizures, developmental delay), and ophthalmological and haematological abnormalities characterized their clinical picture. About one-quarter of those patients died. Survival was associated with neurological impairment; only one infant was neurologically intact at follow-up. Onset in childhood, in contrast, was associated with less severe haematological abnormalities, largely involving the red cell series. Extrapyramidal signs, dementia, delirium or psychosis characterized the neurological findings. Survival, with mild to moderate disability in some, was typical in patients with later onset. Treatment in both groups included hydroxycobalamin, betaine and carnitine; complete normalization of biochemical parameters was rare.
D S Rosenblatt; A L Aspler; M I Shevell; B A Pletcher; W A Fenton; M R Seashore
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  20     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-10-14     Completed Date:  1997-10-14     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  528-38     Citation Subset:  IM    
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
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MeSH Terms
Age of Onset
Amino Acid Metabolism, Inborn Errors / genetics,  physiopathology*,  urine
Cause of Death
Child, Preschool
Genetic Complementation Test
Homocystinuria / genetics,  physiopathology*,  urine
Infant, Newborn
Methylmalonic Acid / blood,  urine*
Nervous System Diseases / genetics,  physiopathology
Treatment Outcome
Reg. No./Substance:
516-05-2/Methylmalonic Acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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