A 13-year-old girl with a 9-year history of type 1 diabetes with chronic hyperglycaemia
[haemoglobin A1c 69 mmol/mol (8.5%)–90 mmol/mol (10.4%)] presented in diabetic …

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited
metabolic disorder caused by biallelic pathogenic variants in genes related to the …

An 8-year-old girl presented with a hypoglycaemic seizure and dark cutaneous pigmentation
(Figure 1A and B). Response to synacthen stimulation was inadequate and …

Background Congenital bile acid synthesis disorder type 3 caused by oxysterol 7α-
hydroxylase deficiency is an extremely rare genetic liver disease. As it may cause rapid …

Abstract Δ 4-3-Oxosteroid 5β-reductase (AKR1D1) deficiency typically causes severe
cholestasis occurs in newborns, leading to death unless patients are treated with primary …

A 41-year-old healthy female underwent cholecystectomy due to symptomatic gallstone
related acute cholecystitis. A week later she was readmitted with fatigue, low grade fever …

Background: GATA6 mutations are the most frequent cause of pancreatic agenesis and
diabetes in human sporadic cases. In families, dominantly inherited mutations show a …

Results: With the combination of hypoparathyroidism, sensorineural deafness and unilateral
renal dysplasia (in father); patients were accepted as familial hypoparathyroidism …

Background Mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene have been
recently identified in patients with atypical primary hyperoxaluria (PH). However, it was not …

A 17-year-old female with type 2 diabetes was noted to have elevated liver enzymes during
evaluation for participation in a clinical drug trial of an oral hypoglycemic agent. The patient …