Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.

Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a light on the clinical spectrum and outcome of these nine patients who share the same novel genetic mutation. The article was written retrospectively based on the review of patients' medical records, which included clinical notes, biochemical, radiological, and genetic assessments. Analysis of the data from all nine patients revealed that the diagnosis was most commonly made at the early years of life. As expected from any systemic disorder, the disease affects multiple organ systems with musculoskeletal and the gastrointestinal system being most commonly involved. Short stature, skeletal deformities, coarse facial features, and different degrees of hepatomegaly are among initial presentations of the disease. Notably, one of the patients described in this article, developed severe form of cardiomyopathy and another one, presented with nonimmune hydrops fetalis, both of which considered rare occurrences in the context of GS. Genetically, all patients had the similar genetic mutation confirmed by laboratory tests. A few patients have had their diagnoses made based upon family history alone.

A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation.

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare genetic metabolic disorder. Three forms of the disease have been described: the lethal neonatal form, the severe infantile hepatocardiomuscular form, and the myopathic form. We report a case of the infantile form of CPT II deficiency with a novel mutation. Our patient is a seven-year-old Bahraini male who was investigated by the pediatric metabolic team following the sudden death of his twin sister in infancy. A fatty acid metabolic disorder was suspected based on his echocardiogram and tandem mass spectrometry (TMS) findings. Genetic analysis was initially inconclusive. Nonetheless, he was started on a fat-free diet, L-carnitine, and medium-chain triglycerides (MCT). At nearly two years of age, the patient had a metabolic crisis precipitated by a viral illness. TMS during this time was consistent with CPT II deficiency. Sanger sequencing then identified the presence of the variant c.161T>G (p.ille54Ser) in a homozygous state, confirming the diagnosis. Although this mutation has not been reported before in previous literature concerning CPT II deficiency, it is extremely likely that this mutation is pathogenic. Although the initial work-up of the patient was inconclusive, our clinical judgment was paramount in managing the patient.