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97 Possible Causes for Hypoketotic Hypoglycemia

  • 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] Abstract Patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency manifest hypoketotic hypoglycemia, hepatomegaly, hypotonia, lactic acidemia, acute[ncbi.nlm.nih.gov]

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Treatment : It is important to avoid fasting to prevent hypoketotic hypoglycemia.[emilytam.com] It presents during infancy or early childhood, and is characterized by hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly.[cags.org.ae] Thirty-nine patients (78%) presented with hypoketotic hypoglycemia, the classical features of a fatty acid oxidation disorder.[pediatrics.aappublications.org]

  • 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]

  • 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]

  • Carnitine Transporter Deficiency

    Infants often present with hypoketotic hypoglycemia, poor feeding, irritability, lethargy, and hepatomegaly, triggered by fasting stress or common illnesses including gastoenteritis[orpha.net] hypoglycemia that resolved after treatment with carnitine supplementation.[en.wikipedia.org] CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy.[ncbi.nlm.nih.gov]

  • HMG-CoA Lyase Deficiency

    246450]) results in episodes of hypoketotic hypoglycemia and coma and is reported to be frequent and clinically severe in Saudi Arabia.[ncbi.nlm.nih.gov] As a result, excessive accumulation of ammonia (hyperammonemia), metabolic acidosis and hypoketotic hypoglycemia develop during the first year of life.[symptoma.com] Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated.[jhu.pure.elsevier.com]

  • Late-Onset Carnitine Palmitoyl Transferase II Deficiency

    Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal.[ghr.nlm.nih.gov] Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.[abcam.com] Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.[mybiosource.com]

  • Lethal Neonatal Carnitine Palmitoyl Transferase II Deficiency

    Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.[abcam.com] The lethal neonatal and early-onset infantile forms are characterized by liver failure, cardiomyopathy, seizures, hypoketotic hypoglycemia, peripheral myopathy and early death[mayomedicallaboratories.com] Infants with this condition present with respiratory failure, seizures and coma, liver failure with hypoketotic hypoglycemia, and cardiac arrhythmias, within days of being[cags.org.ae]

  • Carnitine Deficiency

    Abstract Systemic carnitine deficiency is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia[ncbi.nlm.nih.gov] The disease can present early in life with hypoketotic hypoglycemia or later in life with skeletal myopathy or cardiomyopathy.[ncbi.nlm.nih.gov] Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy.[ncbi.nlm.nih.gov]

  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency

    Format Definition A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly.[uniprot.org] hypoglycemia.[ncbi.nlm.nih.gov] Genatlas disease for HMGCS2 Gene defective ketogenesis with recurrent hypoketotic hypoglycemia during fasting Relevant External Links for HMGCS2 Genetic Association Database[genecards.org]

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