Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.

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 three methods: 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.

• Authors: J C Haworth, L A Dilling, L E Seargeant
• Journal: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne (CMAJ) Vol. 145 Issue 2 Pg. 123-9 (Jul 15 1991) ISSN: 0820-3946 [Print] Canada
• PMID: 1650287 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glucose-6-Phosphatase

Topics

• Acidosis, Lactic (epidemiology, ethnology)
• Adolescent
• Amino Acid Metabolism, Inborn Errors (epidemiology, ethnology)
• Carbohydrate Metabolism, Inborn Errors (epidemiology, ethnology)
• Child
• Female
• Glucose-6-Phosphatase (metabolism)
• Humans
• Indians, North American
• Infant
• Infant, Newborn
• Male
• Manitoba (epidemiology, ethnology)
• Ontario (epidemiology, ethnology)
• Prevalence