Metabolism
Metabolic diseases can have severe consequences unless diagnosed and treated as soon as possible. Genetic testing permits the earliest possible detection and treatment of affected individuals, even in newborns, and can prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders.
Articles on metabolism
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Maple syrup urine disease gene panel
Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterized by the distinctive sweet odor of the affected infants’ urine. MSUD is caused by the deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD), causing abnormal accumulation of the branched-chain…
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Lysosomal storage diseases (LSD) panel
Lysosomal storage diseases (LSD) are a heterogeneous group of inherited disorders characterized by the accumulation of partially digested or undigested macromolecules in cells, due to the absence of different lysosomal enzymes, which ultimately results in cellular dysfunction and clinical…
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Cornelia de Lange syndrome panel
Cornelia de Lange syndrome (CdLS) is a rare inherited multisystem developmental disorder characterized by distinctive craniofacial features, growth retardation with prenatal onset, intellectual disability, limb malformations, hirsutism, sensorineural hearing loss, myopia, nystagmus and…
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis,…
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Fanconi anemia
Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of…
