Alpha-methylacetoacetic aciduria, also called mitochondrial acetoacetyl-CoA thiolase (T2)
deficiency or beta-ketothiolase deficiency (OMIM# 203750), is an autosomal recessive …

Background: Alagille syndrome (ALGS) is a rare, autosomal dominant multisystem disorder
characterized by cholestasis and extrahepatic manifestations. Given the current era ofileal …

Background: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA
dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with …

DISCUSSION GATA6 transcripts are involved in the differentiation of several endoderm-
derived tissues (1, 2). Consequently, an abnormal pattern expression because of GATA6 …

1. Hattersley AT, Greeley AW, Polak M, et al. The diagnosis and management of monogenic
diabetes in children and adolescents. Pediatr Diabetes. 2018; 19: 47-63. 2. Mayer-Davis EJ …

Background The primary hyperoxalurias are a group of recessive kidney diseases,
characterised by extensive accumulation of calcium oxalate that progressively coalesces …

Glutaric aciduria type II, also known as Multiple acyl-CoA Dehydrogenase Deficiency, results
from a defect in the mitochondrial electron transport chain resulting in an inability to break …

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare genetic
disorder of ketone utilization and isoleucine catabolism caused by mutations in the ACAT1 …

Objectives Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an
ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia and …

Alagille syndrome (AGS) is often associated with symptoms of maldigestion, such as
steatorrhea, hypotrophy and growth retardation. Exocrine pancreatic insufficiency was …