Metabolic disorders

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Metabolic disorders ( Sub Categories )

Autosomal recessive spastic paraplegia type 48

Hereditary spastic paraplegia type 48 (HSP48) is a rare neurological disorder causing progressive stiffness and weakness in the lower limbs due to a genetic defect affecting motor neuron function.

Disorder of lysosomal amino acid transport

Lysosomal amino acid transport disorder is a genetic condition affecting the transport of amino acids within lysosomes, leading to their accumulation and causing neurological issues, developmental delays, and metabolic problems.

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Disorder of sialic acid metabolism

Sialic acid metabolism disorder is a genetic condition affecting the breakdown or transport of sialic acid, leading to its accumulation in cells and causing neurological issues, developmental delays, and motor dysfunctions.

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Glycoproteinosis

Glycoproteinosis is a group of rare lysosomal disorders affecting the breakdown of glycoproteins, leading to their accumulation in cells and causing neurological issues, developmental delays, and organ dysfunctions.

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Lysosomal acid phosphatase deficiency

Lysosomal acid phosphatase deficiency is a rare genetic disorder causing the accumulation of fats and substances in cells due to impaired breakdown, leading to liver and spleen enlargement, neurological issues, and metabolic disorders.

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Lysosomal glycogen storage disease

Lysosomal glycogen storage disease is a rare genetic disorder caused by impaired glycogen breakdown within lysosomes, leading to its accumulation in cells and resulting in muscle weakness, heart and liver complications, and growth abnormalities.

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Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) is a group of inherited lysosomal disorders affecting the breakdown of glycosaminoglycans, leading to their accumulation in cells and causing growth abnormalities, skeletal issues, heart problems, and neurological impairments.

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Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis (NCL) is a group of rare inherited neurological disorders causing the accumulation of lipofuscin in nerve cells, leading to progressive neurodegeneration, vision loss, and motor and cognitive impairments.

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Pycnodysostosis

Pycnodysostosis is a rare genetic bone disorder characterized by increased bone density and hardening, leading to short stature, skeletal deformities, brittle teeth, and potential growth and mobility issues.

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