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1,872 Possible Causes for Abnormal Amniotic Fluid, Hyperammonemia, Wide Space Between the First and Second Toe

  • Propionic Acidemia

    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] The patient's hyperammonemia was monitored for 1 week.[ncbi.nlm.nih.gov] It is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenias.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Ornithine Transcarbamylase Deficiency

    Urea cycle disorders are congenital metabolic disorders that often cause episodic hyperammonemia.[ncbi.nlm.nih.gov] This hereditary disorder is associated with hyperammonemia. OTC deficiency commonly appears during neonatal and early childhood life and is rare in adults.[ncbi.nlm.nih.gov] UCD should be considered for patients with hyperammonemia without severe liver function abnormalities.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Isovaleric Acidemia

    Hyperammonemia occurs mainly in patients with branched-chain organic acidemias such as propionic, methylmalonic, and isovaleric acidemias.[ncbi.nlm.nih.gov] […] in the perioperative period, patients with isovaleric acidemia are at greater risk for morbidity and mortality from disordered metabolism, including glucose disturbances, hyperammonemia[ncbi.nlm.nih.gov] She presented with two episodes of vomiting, poor activity and pancytopenia without obvious metabolic acidosis and hyperammonemia.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Carbamoyl Phosphate Synthetase Deficiency

    Hyperammonemia type 3 is a pathogenetically different but clinically similar UCD provoked by NAGS deficiency.[symptoma.com] Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia).[ghr.nlm.nih.gov] […] may be present (see Hyperammonemia ).[emedicine.medscape.com]

    Missing: Wide Space Between the First and Second Toe
  • Multiple Carboxylase Deficiency

    A newborn infant was seen with metabolic ketoacidosis, hyperammonemia, organic aciduria, seizures, and coma.[ncbi.nlm.nih.gov] […] month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia[ncbi.nlm.nih.gov] […] generalised erythematous rash with skin exfoliation and alopecia, failure to thrive, seizure, coma, developmental delay, foul smelling urine, metabolic acidosis, ketosis and hyperammonemia[ipfs.io]

    Missing: Wide Space Between the First and Second Toe
  • Hyperargininemia

    Abstract Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia that cause neurological impairment and growth retardation[ncbi.nlm.nih.gov] P., 1980, Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias, Eur. J.[link.springer.com] A usually mild or moderate hyperammonemia may occur at any age. The pathogenesis of arginase I deficiency is yet not fully understood.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Argininosuccinic Aciduria

    Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap.[ncbi.nlm.nih.gov] In most cases, hyperammonemia and its consequences can be avoided or, at the very least, reduced.[symptoma.com] While patients with ASA share the acute clinical phenotype of hyperammonemia, encephalopathy, and respiratory alkalosis common to other UCD, they also present with unique[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Methylmalonic Acidemia

    Biological investigations showed a hyperglycemia, a lactic acidosis and a hyperammonemia.[ncbi.nlm.nih.gov] An earlier age of disease onset, the presence of hyperammonemia at diagnosis, and a history of seizures were associated with more severe impairment.[ncbi.nlm.nih.gov] After transplantation, there were no episodes of hyperammonemia, acidosis, or metabolic decompensation.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • HMG-CoA Lyase Deficiency

    As a result, excessive accumulation of ammonia (hyperammonemia), metabolic acidosis and hypoketotic hypoglycemia develop during the first year of life.[symptoma.com] The disease is characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures.[ncbi.nlm.nih.gov] Description 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia[genome.jp]

    Missing: Wide Space Between the First and Second Toe
  • 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] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Hyperammonemia

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