Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.
CMAJ
; 145(2): 123-9, 1991 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-1650287
ABSTRACT
OBJECTIVE:
To compare the prevalence of hereditary metabolic diseases in the native and non-native populations of Manitoba and northwestern Ontario.DESIGN:
Retrospective analysis.SETTING:
Children's Hospital, Winnipeg. PATIENTS Patients were selected by threemethods:
laboratory tests designed to screen patients suspected of having a metabolic disease, laboratory investigation of newborn infants with abnormalities detected through screening, and investigation of near relatives of probands with disease.RESULTS:
A total of 138 patients with organic acid, amino acid and carbohydrate disorders were seen from 1960 to 1990. Of these, 49 (36%) were native Indians (Algonkian linguistic group). This was in sharp contrast to the proportion of native Indians in the total study population (5.8%). Congenital lactic acidosis due to pyruvate carboxylase deficiency (13 patients), glutaric aciduria type I (14 patients) and primary hyperoxaluria type II (8 patients) were the most common disorders detected. Other rare disorders included glutaric aciduria type II (one patient), 2-hydroxyglutaric aciduria (one patient) and sarcosinemia (one patient). Underreporting, especially of glutaric aciduria type I and hyperoxaluria type II, was likely in the native population.CONCLUSIONS:
Hereditary metabolic diseases are greatly overrepresented in the native population of Manitoba and northwestern Ontario. We recommend that native children who present with illnesses involving disturbances of acid-base balance or with neurologic, renal or liver disease of unknown cause by investigated for a possible metabolic disorder.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acidose Láctica
/
Erros Inatos do Metabolismo dos Carboidratos
/
Indígenas Norte-Americanos
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Prevalence_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article