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966 Possible Causes for Abnormal Amniotic Fluid, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] fluid Abnormally large placenta Fluid causing swelling in and around the unborn baby's organs, including the liver, spleen, heart, or lung area An amniocentesis and frequent[medlineplus.gov] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

    Missing: Abnormal Amniotic Fluid
  • Propionic Acidemia

    The patients demonstrate progressive ataxia, spastic quadriplegia, and relatively preserved mental capacities.[docslide.us] This experience demonstrates the value of analysis of abnormal metabolites in amniotic fluid and highlights a problem that could confound the prenatal diagnosis of any condition[ncbi.nlm.nih.gov] […] syndrome Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital erythropoietic porphyria Congenital ichthyosis-intellectual disability-spastic[se-atlas.de]

    Missing: Mutation in the VPS53 Gene
  • Carbamoyl Phosphate Synthetase Deficiency

    […] syndrome Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital erythropoietic porphyria Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] quadriplegia syndrome Congenital intrinsic factor deficiency Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe[se-atlas.de] […] encephalopathy-progressive cerebral atrophy syndrome Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability[se-atlas.de]

    Missing: Mutation in the VPS53 Gene
  • Cystic Fibrosis

    fluid.[oadoi.org] Claus D, Pringot J, Francois B, De Meyer R (1973) The intestinal radiological abnormalities of cystic fibrosis. Ann Radiol 16:177–181 Google Scholar 11.[oadoi.org] AHW, Kleijer WJ, Van Diggelen OP, Van der Veer E, Sips HJ (1986) Prenatal detection of cystic fibrosis: comparative study of maltase and alkaline phosphatase activities in amniotic[oadoi.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Down Syndrome

    Therefore, alterations in amniotic fluid metabolites may provide important clues to understanding the etiology of fetal disease and help to develop diagnostic testing for[ncbi.nlm.nih.gov] In these diagnostic tests, samples of fetal cells are taken from the amniotic fluid or from the mother’s placenta and analyzed for the presence of the abnormal chromosome.[britannica.com] Chromosomal abnormalities such as Down syndrome can often be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta.[stanfordchildrens.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Xeroderma Pigmentosum

    […] cells may be used to diagnose the condition prior to birth Amniocentesis is a test conducted to diagnose fetal abnormalities by removing a small amount of amniotic fluid[dovemed.com] […] that can help assess fetal tissues too Chorionic villus sampling is a procedure performed to identify any genetic abnormality in the fetus Tests used to diagnose Xeroderma[dovemed.com] […] thorough physical exam The physical examination may involve examining the eye, evaluating the cornea and eyelids Amniocentesis, chorionic villus sampling, and culture of amniotic[dovemed.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Isovaleric Acidemia

    Diagnosis In some cases, Isovaleric Acidemia may be diagnosed before birth (prenatally) by measuring the concentration of abnormal metabolites in amniotic fluid or the activity[rarediseases.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Multiple Carboxylase Deficiency

    Abstract In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of mitochondrial propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. A possible primary or secondary defect in biotin absorption leads to an infantile-onset[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Hyperglycemia

    We report a 74-year-old woman who presented with bilateral chorea and no known history of diabetes. Movement disorders such as chorea can be observed in patients presenting with hyperglycemia. The occurrence of hemichorea-hemiballism has been increasingly associated with nonketotic hyperglycemia in the medical[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia