Spectrum of inborn errors of metabolism in Jordan : five years experience at King Hussein Medical Center

الملخص EN

Objective : To describe the different types, and frequencies of inborn errors of metabolism in the Pediatric Metabolic Genetics Clinic at King Hussein Medical Center, Amman, Jordan.

Methods : A retrospective review of the medical records of patients attending the metabolic genetics clinic who were diagnosed to have an inborn error of metabolism over the last five years (Jan 2005-Jan 2010) was conducted.

The following data were recorded, age, gender, diagnosis, consanguinity of parents, and the presence of affected family members or relatives.

Results : A total of 212 patients were included in the study, 107 were males and 105 were females with a male to female ratio of 1 : 1.

The mean age of patients at diagnosis was 11.8 ± 11.1 months (range 1-50 months).

Fifty seven (27.8 %) patients had aminoacidopathies of whom 24 (11.3 %) had tyrosinemia, 51 (24.1 %) patients had organic acidemias of whom 14 (6.6 %) had propionic acidemia.

Twenty five (11.8 %) had lysosomal storage diseases, 21 (9.9 %) patients had glycogen storage disease.

Seventeen had dyslipidemias, seven (8 %) had peroxisomal disorders, four (1.9 %) had galactosemia, and 28 (13.2 %) had other diagnoses.

Parental consanguinity was noted in137 out of 151 families, and 79 of 151 families (54 %) had another affected family member.

Conclusion : Patients with inborn errors of metabolism are becoming increasingly diagnosed.

Tyrosinemia is the most common of the aminoacidopathies, whereas propionic acidemia is the commonest of the organic acidemias.

Due to the difficulties and delay in diagnosing these diseases, newborn screening is highly recommended for early intervention and counselling.