Metabolic disorders

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Metabolic disorders ( Sub Categories )

Alacrimia-choreoathetosis-liver dysfunction syndrome

Aplasia of lacrimal and salivary glands with chorea and liver dysfunction syndrome is a rare genetic disorder characterized by dry eyes due to reduced tear secretion, involuntary choreiform movements, and liver function abnormalities.

Alpha-1-antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a genetic disorder causing low levels of this protein, leading to lung damage and liver diseases, such as emphysema and cirrhosis, especially in smokers or those with chronic infections.

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Autosomal dominant myoglobinuria

Dominant hereditary myolysis is a genetic muscle disorder caused by structural or functional muscle weakness, leading to recurrent episodes of muscle breakdown or weakness, especially after exertion or infection.

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Brachytelephalangic chondrodysplasia punctata

Mild chondrodysplasia is a rare genetic disorder affecting bone and cartilage growth, leading to short stature and mild skeletal deformities, without significant impact on motor functions or life expectancy.

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Congenital isolated hyperinsulinism

Isolated congenital hyperinsulinism is a rare genetic disorder characterized by excessive insulin secretion, leading to severe hypoglycemia, which can cause neurological complications if not treated early.

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Genetic recurrent myoglobinuria

Recurrent hereditary myolysis is a genetic muscle disorder characterized by repeated episodes of muscle breakdown (rhabdomyolysis), leading to muscle weakness, severe pain, and elevated myoglobin levels in the blood and urine.

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Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to bisphosphoglycerate mutase deficiency is a rare genetic disorder causing impaired energy production in red blood cells, leading to their premature breakdown (hemolysis) and chronic anemia.

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Hypotonia-failure to thrive-microcephaly syndrome

Myasthenia, growth failure, and microcephaly syndrome is a rare genetic disorder characterized by muscle weakness (myasthenia), severe growth retardation, and a small head size (microcephaly), often associated with neurological and cognitive impairments.

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NAD(P)HX dehydratase deficiency

NAD(P)HX dehydratase deficiency is a rare metabolic disorder affecting the recycling of NADH/NADPH compounds, potentially leading to abnormal metabolite accumulation in cells, neurological disorders, and metabolic complications.

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