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Articles tagged with Metabolic diseases CentoPedia

  • Publications about genetic testing for metabolic disorders

    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,…

  • Publications about genetic testing for metabolic disorders

    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…

  • Sandhoff disease

    Sandhoff disease is a rare inherited lysosomal storage disorder caused by an accumulation of the specific glycosphinogolipid, GM2 ganglioside1, particularly in neurons. This accumulation results in a progressive neurodegenerative disorder clinically indistinguishable from Tay-Sachs disease. Because…

  • Publications about genetic testing for metabolic disorders

    Glycogen storage disease II or Pompe disease

    Pompe disease, also known as glycogen storage disease type 2 (GSD II), is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

  • Publications about genetic testing for metabolic disorders

    Mucopolysaccharidosis type 2 (MPS II)

    Mucopolysaccharidosis type II (also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation and caused by lack of the enzyme iduronate sulfatase, encoded by the IDS gene.

  • Publications about genetic testing for metabolic disorders

    Mucopolysaccharidosis type ICH (MPS1-H)

    MPS I has been divided into three broad groups based on severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively; and the Hurler-Scheie syndrome is intermediate in…

  • Publications about genetic testing for metabolic disorders

    Mucopolysaccharidosis type IVA

    Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome A, is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate.

  • Publications about genetic testing for metabolic disorders

    GLB1-related disorders

    GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. GM1 gangliosidosis, also known as GLB1 deficiency, is estimated to occur in…

  • Publications about genetic testing for metabolic disorders

    Niemann-Pick disease, type C

    Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type C is due to variants in one of two different genes, NPC1 and NPC2. It is characterized by progressive neurodegeneration with an estimated…

  • Publications about genetic testing for metabolic disorders

    Gaucher disease

    Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. The disorder results from the deficiency of the enzyme glucocerebrosidase. The prevalence of GD is approximately 1 in 57,000 to 1 in 75,000 worldwide but the…

  • Publications about genetic testing for metabolic disorders

    Fabry disease

    Fabry disease is a lysosomal storage disorder which will typically lead to the accumulation of the sphingolipid globotriaosylceramide (Gb3) in numerous organs of the body. The patients may presents with isolated symptoms (e.g. only pain or cerebrovascular disorders) or with multiple symptoms which…

  • Lyso-SM-509 is a highly specific and sensitive biomarker for the identification of Niemann-Pick patients: a 30 months study

    We present data from a 2 year global cohort of Niemann Pick patients using lyso-SM-509 biomarker determination, followed by sequencing of NPC1/2 genes. Determination of lyso-SM-509 is performed by LC/MRM-MS in plasma, serum, EDTA blood anddried blood spots (DBS). We identified in a world-wide study…

  • Glucosylsphingosine (lyso-Gb1) plays a central role in the diagnosis and proper assessment of disease severity in Gaucher patients

    We have developed and systematically validated a high-throughput workflow for the simple testing of GD patients: beta-glucocerebrosidase enzymatic activity, glycosylsphingosine (lyso-Gb1) quantification in DBS followed by GBA gene sequencing from the sample blood sample. We report data from over 940…

  • Biochemical and genetic data from the largest global Fabry cohort reported to present

    Fabry disease is an X-linked inherited lysosomal storage disease characterized by a deficient alpha-galactosidase caused by mutations in GLA gene. We present here the data collected over a period of over10 years regarding in vitro Fabry diagnosis.

  • Publications about genetic testing for metabolic disorders

    Methylmalonic acidemia

    Methylmalonic acidemia (MMA) is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. The prevalence of methylmalonic acidemia is estimated between 1:50,000 and 1:100,000. In Japan, the birth prevalence may…

  • Publications about genetic testing for metabolic disorders

    Urea cycle disorder

    Urea cycle disorders are a group of genetic disorders caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted…

  • Publications about genetic testing for metabolic disorders

    Mucopolysaccharidoses

    Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…

  • Publications about genetic testing for metabolic disorders

    Joubert syndrome

    Joubert syndrome and related disorders (JSRD) are a group of rare autosomal recessive conditions characterized with developmental delay and multiple congenital anomalies. The obligatory hallmark of JRSD is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain…

  • Publications about genetic testing for metabolic disorders

    Zellweger syndrome

    Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, and psychomotor impairment,…


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