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134 Possible Causes for High-Arched Palate (61%), Phytanic Acid Increased

Did you mean: High-Arched Palate (61, ), Phytanic Acid Increased

  • Zellweger Syndrome

    Catabolic Dysfunction increased catalase (in the cytosol) increased VLCFA increased phytanic acid increased L-pipecolic acid 2.[pedbase.org] palate 50% (4/8) 95% (35/37) present abnormal ears 50% (4/8) 98% (39/40) present high forehead present 97% (58/60) present neonatal seizures no 92% (56/61) 95% (36/38) neuronal[dx.doi.org] In the two CHRS patients, increased plasma levels of very long chain fatty acids (C26:1, C26:0) and phytanic acid were in the same range as those observed in seven other instances[ncbi.nlm.nih.gov]

  • Refsum Disease

    Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity,[ncbi.nlm.nih.gov] It was found, that phytanic acid (1) increased the mobility of phospholipid molecules (indicated by a decrease in the order parameter) and (2) altered the conformational state[ncbi.nlm.nih.gov] All patients exhibit accumulation of an unusual branched-chain fatty acid, phytanic acid (3,7,11,15-tetramethylhexadecanoic acid), in blood and tissues.[thedoctorsdoctor.com]

    Missing: High-Arched Palate (61%)
  • Moebius Syndrome

    palate (61%) tongue hypoplasia (77%), teeth defects (37%) Limb malformations Syndactyly, oligodactyly, brachydactyly, arthrogryposis, absent trapezius or pectoral muscles[patient.info] 2 ] Associated abnormalities [ 1 ] Orofacial dysmorphism Micrognathia (64% of patients), ocular hypertelorism (25%), epicanthal folds (89%), external ear defects (47%), high-arched[patient.info]

    Missing: Phytanic Acid Increased
  • Polyneuropathy

    acid.[nnjournal.net] The critical diagnostic criterion is the significant elevation of plasma level of phytanic acid.[ 2, 6 ] The diagnosis or confirmation of CIDP needs to be differential with[nnjournal.net] There is also significant increase of CSF protein, which leads to misdiagnosis of CIDP.[nnjournal.net]

    Missing: High-Arched Palate (61%)
  • Rhizomelic Chondrodysplasia Punctata Type 2

    , increased phytanic acid levels and reduced red-cell plasmalogens).[casereports.bmj.com] In addition, plasma levels of phytanic acid are increased in RCDP type I.[invitae.com] Biochemical assays which are confirmatory for diagnosis includes plasma phytanic acid levels, which are increased but during infancy the plasma phytanic acid levels are normal[jcnonweb.com]

    Missing: High-Arched Palate (61%)
  • Infantile Refsum Disease

    Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity,[thedoctorsdoctor.com] His plasma very long chain fatty acids analysis revealed increased levels of phytanic acid, pristanic acid, and higher ratios of C24/22 and C26/22 than the normal.[thieme-connect.com] Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis.[link.springer.com]

    Missing: High-Arched Palate (61%)
  • Pipecolic Acidemia

    Diets which are very low in phytanic acid ( Resources - Refsum disease with increased pipecolic acidemia Not supplied.[checkorphan.org] Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity,[thedoctorsdoctor.com] All four patients had elevated serum phytanic acid concentrations (0.3 to 2.7 mg/dl, normal 26/C 22 very long chain fatty acids was increased (0.10 to 0.22; normal Pediatrics[ohsu.pure.elsevier.com]

    Missing: High-Arched Palate (61%)
  • Congenital Deafness

    […] in the number of cells. 50 It is caused by defective phytanic acid metabolism, and as such, the diagnosis is established by determining the serum concentration of phytanic[nature.com] […] sensorineural hearing loss associated with retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid without an increase[nature.com]

    Missing: High-Arched Palate (61%)
  • Rhizomelic Chondrodysplasia Punctata Type 1

    Biochemically, RCDP patients have subnormal levels of red cell plasmalogens and progressive accumulation of phytanic acid starting from normal at birth and increasing to levels[cags.org.ae] Increased phytanic acid appears not to be the cause of cerebellar atrophy.[neurology.org] In addition, plasma levels of phytanic acid are increased in RCDP type I.[invitae.com]

    Missing: High-Arched Palate (61%)
  • Hypertrophic Interstitial Neuropathy

    Refsum's Disease (disorder of lipid metabolism) a) Biochemical defect: deficiency of phytanic oxidase; increased phytanic acid in plasma. b) Clinical expression: peripheral[kobiljak.msu.edu]

    Missing: High-Arched Palate (61%)

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