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177 Possible Causes for Hypoketotic Hypoglycemia

  • Medium Chain Acyl CoA Dehydrogenase Deficiency

    It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness.[ncbi.nlm.nih.gov] The symptom mainly related to MCAD deficiency is that of hypoketotic hypoglycemia, which is responsible for an altered mental status, weakness, lethargy or coma in young children[symptoma.com] The metabolic consequences are severe and include hypoketotic hypoglycemia leading to a Reye-like hepatic encephalopathy syndrome and sudden death.[dovepress.com]

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Treatment : It is important to avoid fasting to prevent hypoketotic hypoglycemia.[emilytam.com] Thirty-nine patients (78%) presented with hypoketotic hypoglycemia, the classical features of a fatty acid oxidation disorder.[pediatrics.aappublications.org] This is known as acute fatty liver of pregnancy or AFLP syndrome Investigations : In an acute episode, blood and urine samples may show hypoketotic hypoglycemia.[emilytam.com]

  • Mitochondrial Trifunctional Protein Deficiency

    The onset is induced by fasting or illness and manifests as hypoketotic hypoglycemia.[symptoma.com] Nine (43%) patients presented with rapidly progressive clinical deterioration; six (67%) of them had hypoketotic hypoglycemia.[ncbi.nlm.nih.gov] Patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency manifest hypoketotic hypoglycemia, hepatomegaly, hypotonia, lactic acidemia, acute renal[ncbi.nlm.nih.gov]

  • Severe Infantile Carnitine Palmitoyl Transferase II Deficiency

    Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.[uniprot.org] . • A severe infantile form with liver failure and hypoketotic hypoglycemia and a lethal neonatal form represent other rarer manifestations. • Analysis of acylcarnitine profile[medlink.com] Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal.[ghr.nlm.nih.gov]

  • Chondrodysplasia punctata Type Toriello

    hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.][ebi.ac.uk] […] dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic[ebi.ac.uk]

  • Hypoglycemic Encephalopathy

    It is expressed with cardiomyopathy or hypoketotic hypoglycemia in infancy.[e-sciencecentral.org] Treatment : It is important to avoid fasting to prevent hypoketotic hypoglycemia.[emilytam.com] Patients with carnitine deficiency may present with hypoketotic hypoglycemia and other symptoms.[e-sciencecentral.org]

  • Glutaric Aciduria

    Metabolic disease was suspected based on increased levels of serum lactate, ammonia and transaminases and hypoketotic hypoglycemia.[journals.lww.com] Glutaric aciduria type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an inborn error of metabolism clinically characterized by hypoketotic hypoglycemia[nature.com]

  • Familial Hypertrophic Cardiomyopathy 1

    […] type Hypoketotic hypoglycemia Low mortality Childhood & Adult type (Myopathic) 3 Mutations Lysine238 deletion (Homozygous); Gly401Asp Arg410His; Ala416Thr (Temperature sensitive[neuromuscular.wustl.edu] Breast feeding Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy Habitus: Overweight CNS: Episodic encephalopathy Muscle Fatigue (35%) Muscle pain (31%) Exercise tolerance[neuromuscular.wustl.edu] […] deficiency Carnitine-acylcarnitine translocase (SLC25A20) ; Chromosome 3p21.31; Recessive Muscle: Myopathy Cardiomyopathy Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy[neuromuscular.wustl.edu]

  • Familial Hypertrophic Cardiomyopathy Type 21

    […] type Hypoketotic hypoglycemia Low mortality Childhood & Adult type (Myopathic) 3 Mutations Lysine238 deletion (Homozygous); Gly401Asp Arg410His; Ala416Thr (Temperature sensitive[neuromuscular.wustl.edu] Breast feeding Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy Habitus: Overweight CNS: Episodic encephalopathy Muscle Fatigue (35%) Muscle pain (31%) Exercise tolerance[neuromuscular.wustl.edu] […] deficiency Carnitine-acylcarnitine translocase (SLC25A20) ; Chromosome 3p21.31; Recessive Muscle: Myopathy Cardiomyopathy Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy[neuromuscular.wustl.edu]

  • Dilated Cardiomyopathy 1R

    […] type Hypoketotic hypoglycemia Low mortality Childhood & Adult type (Myopathic) 3 Mutations Lysine238 deletion (Homozygous); Gly401Asp Arg410His; Ala416Thr (Temperature sensitive[neuromuscular.wustl.edu] Breast feeding Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy Habitus: Overweight CNS: Episodic encephalopathy Muscle Fatigue (35%) Muscle pain (31%) Exercise tolerance[neuromuscular.wustl.edu] […] deficiency Carnitine-acylcarnitine translocase (SLC25A20) ; Chromosome 3p21.31; Recessive Muscle: Myopathy Cardiomyopathy Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy[neuromuscular.wustl.edu]

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