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.

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.

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Purpose: Auxiliary partial orthotopic liver transplantation (APOLT) in metabolic liver disease (MLD) has the advantage of correcting the metabolic defect, preserving the native liver for gene therapy in the future with the possibility of withdrawal of immunosuppression.

Methods: Retrospective analysis of safety and efficacy of APOLT in correcting the underlying defect and its impact on neurological status of children with MLD.

Results: A total of 13 APOLT procedures were performed for MLD during the study period.

Guidelines for acute management of hyperammonemia in the Middle East region.

Background: Hyperammonemia is a life-threatening event that can occur at any age. If treated, the early symptoms in all age groups could be reversible. If untreated, hyperammonemia could be toxic and cause irreversible brain damage to the developing brain.