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200 Possible Causes for Episodic Hyperammonemia, Episodic Insulin-Responsive Hyperglycemia

  • Mitochondrial Complex 3 Deficiency Nuclear Type 6
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

    Hyperammonemia was documented during an episode of confusion in the male sibling but not in his sister.[jamanetwork.com] It has variable clinical presentations with episodic hyperammonemia, liver dysfunction, and chronic neurological manifestations.[ncbi.nlm.nih.gov] Zuhair; Abu-Amero, Khaled K Publisher(s): Tags: Biochemistry, Genetics and Molecular Biology; Medicine; Neuroscience article description Show More Hide Hyperornithinemia-hyperammonemia-homocitrullinuria[plu.mx]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Ornithine Transcarbamylase Deficiency

    Urea cycle disorders are congenital metabolic disorders that often cause episodic hyperammonemia.[ncbi.nlm.nih.gov] Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia.[ncbi.nlm.nih.gov] Neurologic symptoms in ornithine transcarbamylase deficiency do not only occur during an episode of hyperammonemia and may present as a transient neurologic symptoms compatible[ncbi.nlm.nih.gov]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Urea Cycle Disorder

    , homocitrullinemia Clinical features: Intellectual disability, progressive spastic paraparesis, episodic confusion, hyperammonemia, dyspraxia, seizures, vomiting, retinopathy[msdmanuals.com] Symptoms and Signs Clinical manifestations range from mild (eg, failure to thrive, intellectual disability, episodic hyperammonemia) to severe (eg, altered mental status,[merckmanuals.com] Ninety-six percent of the patients survived episodes of hyperammonemia (1132 of 1181 episodes).[nejm.org]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Argininosuccinic Aciduria

    , homocitrullinemia Clinical features: Intellectual disability, progressive spastic paraparesis, episodic confusion, hyperammonemia, dyspraxia, seizures, vomiting, retinopathy[msdmanuals.com] Less severe forms of the disease are characterized by episodic hyperammonemia, triggered by infectious disease, fasting, stress or non-compliance with dietary restrictions[symptoma.com] The clinical features are characterized by mild retardation and ataxia, complicated by episodes of hyperammonemia.[ncbi.nlm.nih.gov]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Hyperargininemia

    hyperammonemia.[ncbi.nlm.nih.gov] […] is a urea cycle disorder, in which untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening[treatable-id.org] A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.[ncbi.nlm.nih.gov]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Citrullinemia

    A later onset presentation is less frequent and may be similar to or milder than the neonatal form and present with feeding difficulties, vomiting, episodic hyperammonemia[genedx.com] […] a rare disease Citrullinemia type II Disease definition A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes[orpha.net] […] of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs).[orpha.net]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Propionic Acidemia

    Propionic acidemia is a rare metabolic disorder that often results in episodic hyperammonemia, basal ganglia infarction, mental retardation, and cardiomyopathy.[ncbi.nlm.nih.gov] A female infant with episodic hyperammonemia due to a disorder of the urea cycle and who had hyperlysinemia and an unusual elevation of short chain fatty acids, mainly propionate[ncbi.nlm.nih.gov] Author Notes Published: 01 October 1976 Abstract A female infant with episodic hyperammonemia due to a disorder of the urea cycle and who had hyperlysinemia and an unusual[academic.oup.com]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Disorder of Ornithine Metabolism

    Treated girls under five years of age had an average of one episode of hyperammonemia per year ( Table 3 ).[nejm.org] , homocitrullinemia Clinical features: Intellectual disability, progressive spastic paraparesis, episodic confusion, hyperammonemia, dyspraxia, seizures, vomiting, retinopathy[merckmanuals.com] Tuchman M, Knopman DS, Shih VE (1990) Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.[link.springer.com]

    Missing: Episodic Insulin-Responsive Hyperglycemia
  • Citrullinemia Type 2

    Symptoms and Signs Clinical manifestations range from mild (eg, failure to thrive, intellectual disability, episodic hyperammonemia) to severe (eg, altered mental status,[merckmanuals.com] CTLN2 typically presents in adulthood with recurring neuropsychiatric symptoms associated with episodic hyperammonemia, including disorientation, irritability, delusions,[genedx.com] […] a rare disease Citrullinemia type II Disease definition A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes[orpha.net]

    Missing: Episodic Insulin-Responsive Hyperglycemia

Further symptoms