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199 Possible Causes for Failure to Thrive, Variable Hypoglycemia

  • Glycogen Storage Disease Type 6

    Individuals with GSD VI typically exhibit hepatomegaly, growth retardation, and variable but mild episodes of fasting hypoglycemia and hyperketosis during early childhood.[emedicine.medscape.com] […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy When there are mutations in the PYGL gene, there is not enough functioning glycogen phosphorylase[rarediseases.info.nih.gov] 1 The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. ( 28245189 ) 2017 2 Pediatric patient with hyperketotic hypoglycemia diagnosed[malacards.org]

  • Growth Failure

    Potential for future growth in infants with IUGR is variable and depends on the etiology.[hawaii.edu] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Failure to thrive has many possible causes. In some cases, more than one thing may cause it. A baby or child may not be taking in enough nutrients and calories.[childrensnational.org]

  • Hypoglycemia

    Glycemic variability portends increased risk for hypoglycemia and should be a focus of further research.[ncbi.nlm.nih.gov] At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia.[ncbi.nlm.nih.gov] Hepatomegaly, jaundice, cataracts, failure to thrive, sepsis ( E. coli ), diarrhea, vomiting, pseudotumor cerebri, mental retardation and renal Fanconi syndrome.[pedclerk.bsd.uchicago.edu]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    Moreover, while patients diagnosed clinically have a variable clinical presentation including developmental delay, ketotic hypoglycemia, epilepsy and behavioral disorders,[ncbi.nlm.nih.gov] As a result, patients present at an early age with muscle weakness, failure to thrive, developmental delay, hypotonia, seizures, and metabolic acidosis.[symptoma.com] Afterwards the failure to thrive and developmental delay were present.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 4

    Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. There is no hyperlactic acidemia or hyperuricemia.[ommbid.mhmedical.com] Morbidity is chiefly due to hepatosplenomegaly, hepatic failure and failure to thrive seen in affected individuals.[symptoma.com] ( Hum Mol Genet 2009;18:2045 ) Also called Cori disease Variable liver, cardiac muscle and skeletal muscle involvement ( GeneReviews: Glycogen Storage Disease Type III [Accessed[pathologyoutlines.com]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. There is no hyperlactic acidemia or hyperuricemia.[ommbid.mhmedical.com] Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration[ncbi.nlm.nih.gov] .5,6,7,8,9 Case Report: A 18 month old female child (Fig.1), second born of a non consanguineous marriage was brought to us with complains of failure to thrive, abdominal[journalofpediatriccriticalcare.com]

  • Hawkinsinuria

    Symptoms and age at presentation of late-onset MADD (type III) are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis[neupsykey.com] Metabolic acidosis and failure to thrive appear to be confined to infancy.[ncbi.nlm.nih.gov] Herein we describe clinical and laboratory findings in two fraternal twins with hawkinsinuria who presented with failure to thrive and metabolic acidosis.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 1

    1 The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. ( 28245189 ) 2017 2 Pediatric patient with hyperketotic hypoglycemia diagnosed[malacards.org] .5,6,7,8,9 Case Report: A 18 month old female child (Fig.1), second born of a non consanguineous marriage was brought to us with complains of failure to thrive, abdominal[journalofpediatriccriticalcare.com] Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. There is no hyperlactic acidemia or hyperuricemia.[ommbid.mhmedical.com]

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    The variable presentation includes infantile hypoketotic hypoglycemia, vomiting, lethargy, hypotonia, and failure to thrive.[genedx.com] […] to thrive.[nxgenmdx.com] Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction,[genecards.org]

  • Russell-Silver Syndrome

    Physical findings are variable and can include abdominal wall defects, macroglossia, and hemihyperplasia.[mayomedicallaboratories.com] Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating[ncbi.nlm.nih.gov] Mosaic trisomy 7 was diagnosed after birth, on fibroblasts karyotype performed for blaschkolinear pigmentary skin anomalies and failure to thrive.[ncbi.nlm.nih.gov]

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