Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.

Carnitine-acylcarnitine translocase (CACT) deficiency (McKusick 212138) is a rare life threatening disorder characterized by hypoketotic hypoglycemia, hyperammonemia, encephalopathy, cardiomyopathy hepatopathy, and myopathy. Here, we present a detailed clinical course of 3 Saudi siblings with a severe phenotype. The third patient was described in more detail.

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008.

Background And Objectives: Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years.

Methods: The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders.

Acrodermatitis enteropathica-like skin eruption in a case of short bowel syndrome following jejuno-transverse colon anastomosis.

Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. Zinc is an essential trace element in human metabolism and acquired zinc deficiency may manifest with skin eruptions simulating acrodermatitis enteropathica. We report an unusual case of acrodermatitis enteropathica-like skin eruption due to deficiency of zinc and other nutritional factors in a patient who has undergone extensive small bowel resection and jejuno-transverse colon anastomosis for mesenteric ischemia.

Incidence and features of galactosaemia in Saudi Arabs.

Over a 12-year period (1983 to 1994), 11 cases of classical galactosaemia were identified in the Saudi Aramco Medical Services Organization (SAMSO). This yields an incidence of 12 cases per 100,000 live births in the Easter Province of Saudi Arabia. A higher proportion of infants presented with infections compared to reports in the literature.