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139 Possible Causes for Poor Feeding, Urine Organic Acids Abnormal

  • Isovaleric Acidemia

    It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.[ghr.nlm.nih.gov] This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound[ncbi.nlm.nih.gov] Clinical features of IVA include poor feeding, vomiting, lethargy, developmental delay, metabolic acidosis, and a characteristic "sweaty foot" odor.[ncbi.nlm.nih.gov]

  • Propionic Acidemia

    It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.[ghr.nlm.nih.gov] A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding[ncbi.nlm.nih.gov] Neonatal-onset propionic acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy[ncbi.nlm.nih.gov]

  • Organic Aciduria

    Abstract We investigated the use of a diode array detector in conjunction with isocratic cation-exchange liquid chromatography for detection of organic acids in urine.[ncbi.nlm.nih.gov] feeding, and failure to thrive.[ncbi.nlm.nih.gov] Case 1 This patient, a girl born in June 1994, presented hypotonia, poor feeding, dehydration (20% weight loss) and low body temperature (35.5 ) at 53 hours of age after a[ojrd.biomedcentral.com]

  • Carbamoyl Phosphate Synthetase Deficiency

    Urea cycle disorders can be differentiated from these disorders through the examination of urine for elevated levels of, or abnormal, organic acids.[rarediseases.org] Poor feeding, low activity, and tachypnoea were observed, with rapid progression on day 2 after birth.[journals.lww.com] feeding.[themedicalbiochemistrypage.org]

  • Maple Syrup Urine Disease

    Follow-up Testing after Positive Screen Plasma amino acids (elevated leucine, isoleucine, alloleucine, valine); urine organic acid analysis (abnormal branched-chain ketoacids[medicalhomeportal.org] Disease definition A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in[orpha.net] Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched chain amino acids (leucine[ncbi.nlm.nih.gov]

  • Hyperammonemia Type 3

    Urine organic acid analysis revealed no specific abnormalities. DNA analysis showed no mutation in the OTC gene.[ajnr.org] Parents of neonates born with NAGS gene defects often claim feeding difficulties; retrospectively, poor feeding can generally be traced back to the first day of the child's[symptoma.com] The clinical manifestations are variable but common features include vomiting, hyperactivity or lethargy, diarrhoea, poor feeding, seizures, hypotonia, delayed psychomotor[orpha.net]

  • Methylmalonic Acidemia

    Excretion of methylmalonate, a product of amino acid metabolism, in the urine is abnormally high and therefore is a marker of the disorder.[rarediseases.org] Clinical considerations: Poor feeding, vomiting, lethargy, tachypnea Dehydration Metabolic ketoacidosis Hyperammonemia Hypoglycemia Referral: If signs are present or infant[archildrens.org] Symptoms of a metabolic crisis include: poor feeding vomiting low muscle tone excessive sleepiness irritability rapid breathing muscle spasms If a metabolic crisis is not[newbornscreening.on.ca]

  • Urea Cycle Disorder

    Urine organic acid analysis revealed no specific abnormalities. DNA analysis showed no mutation in the OTC gene.[ajnr.org] High ammonia levels in the blood and brain cause irritability, poor feeding, vomiting, drowsiness and, in severe cases, coma.[cafamily.org.uk] Such babies seem normal right after birth and nurse well, but over time the following symptoms emerge: Irritablity Lethargy Poor feeding Vomiting.[news-medical.net]

  • Mitochondrial Complex 3 Deficiency

    RESULTS The elevated creatine kinase and lactate levels with abnormal urine organic acid and acylcarnitine profiles in this patient suggested a mitochondrial disorder.[unboundmedicine.com] CC MC3DN9 clinical features include feeding difficulties, CC hypoglycemia, severe lactic acidosis, and delayed psychomotor CC development. {ECO:0000269 PubMed:25008109}.[genome.jp] MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development.[uniprot.org]

  • Methylmalonic Aciduria Type cblA

    Excretion of methylmalonate, a product of amino acid metabolism, in the urine is abnormally high and therefore is a marker of the disorder.[rarediseases.org] Primary Care Management Upon Notification of the Screen Contact the family and evaluate the infant for poor feeding, lethargy, vomiting, tachnypnea, or ketonuria.[medicalhomeportal.org] Phenotypes Anemia ; Autosomal recessive inheritance ; Coma ; Decreased adenosylcobalamin ; Decreased methylmalonyl-CoA mutase activity ; Dehydration ; Failure to thrive ; Feeding[mousephenotype.org]

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