Disorder - Metabolic disorder

Organ Systems Involved
Systemic

Alternative disorders described within LIDA

Achondroplasia; Amyloidosis; Amyloidosis, AA; Amyloidosis, lambda; Amyloidosis, renal; Chediak-Higashi syndrome; Chondrodysplasia; Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type VII; Epidermolysis bullosa, dystrophic; Epidermolysis bullosa, junctionalis; Epitheliogenesis imperfecta; Factor X deficiency; Factor XI deficiency; Factor XII deficiency; Fibrodysplasia ossificans; Fucosidosis, alpha; Gangliosidosis; Gangliosidosis, GM1; Gangliosidosis, GM2; Gangliosidosis, GM2, GM2A deficiency; Glycogen storage disease II; Glycogen storage disease IV; Kartagener syndrome; Krabbe disease; Lysosomal storage disease; Mannosidosis, alpha; Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Neuroaxonal dystrophy; Neuronal Ceroid Lipofuscinosis, Ceroid Lipofuscinosis; Niemann-Pick disease, type C; Osteochondrodysplasia; Osteodystrophy; Osteogenesis imperfecta; Polyneuropathy; Porphyria, unclassified; Various disorders; Tremor; Xanthinuria

Alternative Names
Inborn errors of metabolism

Presenting Signs

Metabolic disorders, or inborn errors of metabolism, are a vast group of inherited disorders. They are caused when there is a disruption or dysfunction of normal metabolism in the cells. This leads to an energy deficiency or an accumulation of toxic waste products. Waste products are normally excreted from cells, and the accumulation of waste products makes the cells unable to perform normally, impairing normal organ function (e.g. heart, kidneys, brain, liver). Affected animals can show a range of abnormalities, commonly: stunted growth, facial deformities (coarse features), mental retardation, abnormal bones and cartilage, abnormal/uncoordinated walk or stance, vision impairment or hearing impairment.

Breeds Affected
Siamese


PubMed References
Metabolic disorder

Contributor
Anita Elise Blake