Background: Alkaptonuria (AKU) is a rare hereditary metabolic disorder that occupies a unique position in the history of medical and biochemical genetics because it was the first human metabolic disorder to be interpreted as genetically determined. This condition is characterized by deficiency of HGAO, an enzyme that is mainly found in hepatocytes. The medical interest in alkaptonuria stems fro...

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia. Hepatic Vascular Malformations (VMs) range from small telangiectases to significant shunting. Here we report two cases of HHT. Case 1 had diffuse ectasia the hepatic artery along its intrahepatic and extrahepatic course with a arterial aneurysm. 2 presented ileal telangiectases. K...

The object of this chapter was to provide an overview including relevant research progress some genetic disorders with periodontal manifestations. A number increase patient susceptibility disease, the latter exhibit rather rapid and aggressive presentations. Periodontal perhaps could be first detectable sign undiagnosed disorder. It is therefore important for dental practitioners familiar their...

C1-inhibitor (C1-INH) deficiency is a rare blood disorder resulting in angioedema attacks that are debilitating and may be life-threatening. Prophylaxis and therapy of events has changed since our first Canadian Consensus Conference on the diagnosis, therapy and management of HAE. We have formed the Canadian Hereditary Angioedema Network (CHAEN)/Réseau Canadien d'Angioédème Héréditaire (RCAH) -...

Abstract Objective : Hereditary hemochromatosis, or primary is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and laboratory data. Methods The data analyzed this was gathered from the discharge records 2019 2021 of Gastroenterology Department Mures Country Emergen...

CNS (Congenital nephrotic syndrome) is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary) and secondary forms (acquired and associated with other syndromes). The most common form is the Finnish CNS (CNF, congenital nephrotic syndr...

Two patients with Leber's hereditary optic neuropathy underwent morphological and biochemical investigations of muscle biopsy samples from the biceps brachii. Although clinically there was no muscle weakness or atrophy, specific histochemical and electron microscopic examinations showed mild but distinct myopathic changes, including abnormal oxidative enzyme activities, aggregates of enlarged m...

Hereditary haemochromatosis is a common genetic disorder that causes hyperabsorption of dietary iron, leading to increased deposition and various organic diseases. Early diagnosis is important if effective treatment is to be applied and the iron overload corrected before the onset of clinical symptoms. Recently, a candidate gene has been identified in which a single point mutation shows a very ...

Hereditary diabetes insipidus is a rare endocrine disorder caused by a deficiency of the antidiuretic hormone, vasopressin. The disease is characterized by polyuria, extreme thirst, and polydipsia. In this study of six affected members from two families with hereditary diabetes insipidus, it was found that two children who drank water fluoridated at optimum levels developed moderate to severe f...