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1,246 Possible Causes for Delayed Puberty - Metabolic: Episodic Hypoglycemia, Liver Enzymes Abnormal

  • Congenital Disorder of Glycosylation Type 1T

    […] in abnormal storage of glycogen in the liver and various muscles.[sjhbangorlab.testcatalog.org] ), resulting in an accumulation of abnormal GLYCOGEN with long outer branches.[ncbi.nlm.nih.gov] Branching enzyme defect results in an abnormal glycogen structure that is unique to Andersen disease (GSD type IV).[humpath.com]

  • Citrullinemia Type 2

    Urea cycle enzyme disorders are liver based metabolic disorders and liver transplantation is, therefore, an ideal treatment.[jnnp.bmj.com] The optimal goal of treatment in metabolic encephalopathy is to correct the underlying abnormal metabolism in the patient before irreversible brain damage occurs.[jnnp.bmj.com]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Cerebral Angiitis

    Posterior leukoencephalopathy typically denotes neurotoxicity from immunosuppressive agents, malignant hypertension or eclampsia. It has not been documented in central nervous system angiitis. We present three cases associated with isolated cerebral angiitis after review of all cases of isolated CNS angiitis from[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Malaria

    BACKGROUND: Plasmodium knowlesi is increasingly recognized as a cause of human malaria in Southeast Asia but there are no detailed prospective clinical studies of naturally acquired infections. METHODS: In a systematic study of the presentation and course of patients with acute P. knowlesi infection, clinical and[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Biliary Atresia

    Diagnosis is often made following investigation of prolonged jaundice that is resistant to phototherapy and/or exchange transfusions and abnormalities in liver enzymes tests[checkorphan.org] Diagnosis is often made following investigation of prolonged jaundice that is resistant to phototherapy and/or exchange transfusions, with abnormalities in liver enzyme tests[en.wikipedia.org] Diagnosis - Biliary atresia Diagnosis is made by assessing an individual's symptoms, physical exam, and medical history, in conjunction with blood tests, a liver biopsy and[checkorphan.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Congenital Generalized Lipodystrophy Type 4

    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis. Three CGL loci, AGPAT2, BSCL2, and CAV1, have been identified previously.[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Carnitine Transporter Deficiency

    From Wikidata Jump to navigation Jump to search amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy CTD, SPCD systemic primary carnitine deficiency[…][wikidata.org]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Mitochondrial Trifunctional Protein Deficiency

    Summary Epidemiology TFPD has been reported in less than 100 cases in the literature. Clinical description The neonatal onset, severe form manifests as hepatic steatosis, cardiomyopathy, skeletal myopathy and neuropathy and is usually fatal. A moderately severe form, with onset usually from the neonatal period to 18[…][orpha.net]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Aggressive Systemic Mastocytosis

    We report a patient with aggressive systemic mastocytosis (SM), who exhibited eosinophilia and unusual destructive bone lesions. A 43-year-old female was referred to our hospital because of a vertebral compression fracture, multiple lytic bone lesions, and eosinophilia in February 2011. A diagnosis of aggressive SM[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia
  • Severe Aplastic Anemia

    Cell Immunol. 2017 Aug;318:17-22. doi: 10.1016/j.cellimm.2017.03.003. Epub 2017 Apr 24. Zhang T 1 , Yuan X 1 , Liu C 1 , Li Y 1 , Liu H 1 , Li L 1 , Ding K 1 , Wang T 1 , Wang H 1 , Shao Z 2 , Fu R 3 . Author information 1 The Department of Hematology, General Hospital of Tianjin Medical University, Tianjin, PR China. 2 The[…][ncbi.nlm.nih.gov]

    Missing: Delayed Puberty - Metabolic: Episodic Hypoglycemia

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