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17 Possible Causes for Absent Liver Peroxisomes, High-Arched Palate (61%)

Did you mean: Absent Liver Peroxisomes, High-Arched Palate (61, )

  • Zellweger Syndrome

    liver peroxisomes Age of Onset, Natural History, Life Span [ edit ] Most babies are born breech and exhibit failure to thrive.[en.wikibooks.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] Morphologically, peroxisomes were absent from liver.[ncbi.nlm.nih.gov]

  • 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: Absent Liver Peroxisomes
  • Infantile Refsum Disease

    Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction.[ncbi.nlm.nih.gov]

    Missing: High-Arched Palate (61%)
  • Mevalonate Kinase Deficiency

    Other abnormalities are calcific stippling of the epiphyses, small renal cysts, and liver cirrhosis.[emedicine.medscape.com] Ocular findings include congenital cataract, glaucoma and retinal degeneration with an absent electroretinogram (ERG).[emedicine.medscape.com] Patients with ZWS have a decreased number of hepatic peroxisomes, impaired plasmalogen synthesis (especially in RBCs) and increased levels of VLCFA, bile acids, pipecolic,[emedicine.medscape.com]

    Missing: High-Arched Palate (61%)
  • Primary Hyperoxaluria

    […] activity of the liver-specific peroxisomal enzyme alanine/glyoxylate aminotransferase.[ncbi.nlm.nih.gov] It is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine.[ncbi.nlm.nih.gov] Jill.Vanmassenhove@ugent.be Abstract Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder caused by a defect in glyoxylate metabolism attributable to low or absent[ncbi.nlm.nih.gov]

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

    Additional studies at that time suggested that the peroxisomal enzyme 3-ketoacyl-CoA thiolase (ACAA1) was absent in this patient's liver ( Schram et al 1987 ).[medlink.com]

    Missing: High-Arched Palate (61%)
  • AMACR Deficiency

    Additional studies at that time suggested that the peroxisomal enzyme 3-ketoacyl-CoA thiolase (ACAA1) was absent in this patient's liver ( Schram et al 1987 ).[medlink.com] […] expressed in the liver and kidney and thought to be involved in bile acid biosynthesis ( 8 ).[pnas.org] The other homozygous variant encoded premature termination at codon 69 (NM_003500, p.Y69*) in ACOX2, which encodes a branched-chain acyl-CoA oxidase, a peroxisomal enzyme[pnas.org]

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

    Other abnormalities are calcific stippling of the epiphyses, small renal cysts, and liver cirrhosis.[emedicine.medscape.com] Ocular findings include congenital cataract, glaucoma and retinal degeneration with an absent electroretinogram (ERG).[emedicine.medscape.com] Patients with ZWS have a decreased number of hepatic peroxisomes, impaired plasmalogen synthesis (especially in RBCs) and increased levels of VLCFA, bile acids, pipecolic,[emedicine.medscape.com]

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

    Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction.[ncbi.nlm.nih.gov]

    Missing: High-Arched Palate (61%)
  • D-Glyceric Aciduria

    It is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine.[ncbi.nlm.nih.gov] When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs.[ncbi.nlm.nih.gov]

    Missing: High-Arched Palate (61%)

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