Hyperinsulinism in tyrosinaemia type I

Baumann, Ulrich; Preece, Mary Anne; Green, A.; Kelly, Dylan; McKiernan, Patrick

doi:10.1007/s10545-005-5517-1

Cited by 48 publications

(34 citation statements)

References 15 publications

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“…Bilirubin and alkaline phosphatase (AP) also show noticeable increases mainly after 2 weeks of exposure to HT1 metabolites, confirming hepatocellular dysfunction and disruption of hepatobiliary architecture with local impairment of bile flow [47,48]. Low levels of glucose, previously reported in HT1 patients [49,50], were also observed in the fah À/À mice. Blood glucose concentrations go from $15 mmol/L in both controls to 4.8 ± 0.7 mmol/L in NTBC-OFF mice after 5 weeks ($3 times lower).…”

Section: Pathophysiological Changes In Fah à/à Ntbc-off Mice Suggest supporting

confidence: 62%

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Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah−/− knockout mice model

Orejuela

Jorquera

Bergeron

et al. 2008

Journal of Hepatology

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Section: Pathophysiological Changes In Fah à/à Ntbc-off Mice Suggest supporting

confidence: 62%

“…Thus, and because cirrhosis is a recurrent problem in HT1, the AKT survival pathway might also be involved in cirrhosis. It will be important to understand if the HT1 metabolites resulting from FAH deficiency directly affect PI3K by disruption of metabolic homeostasis [49,50] or if they act through regulation of the ER stress response [61].…”

Section: Discussionmentioning

confidence: 99%

Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah−/− knockout mice model

Orejuela

Jorquera

Bergeron

et al. 2008

Journal of Hepatology

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“…Hence if CDG syndrome is suspected, a transferrin isoelectric focusing pattern should be requested. Patients with tyrosinaemia type I may also have HH with islet cell hyperplasia which is not due to impaired insulin clearance, but possibly related to the accumulation of toxic metabolites [35]. In patients with tyrosinaemia type I, urinary organic acids will show excretion of succinylacetone.…”

Section: Metabolic Conditions Associated With Hhmentioning

confidence: 99%

Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy

Hussain¹

2007

Horm Res Paediatr

150

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Hyperinsulinaemic hypoglycaemia is a cause of persistent hypoglycaemia in the neonatal and infancy periods. Prompt recognition and management of patients with hyperinsulinaemic hypoglycaemia are essential, if brain damage and long-term neurological sequelae are to be avoided. Hyperinsulinaemic hypoglycaemia can be transient, prolonged, or persistent (congenital). Advances in the fields of molecular biology, genetics, and pancreatic β-cell physiology are beginning to provide novel insights into the mechanisms causing congenital forms of hyperinsulinism. So far mutations in six different genes have been described that lead to unregulated insulin secretion. The histological differentiation of focal and diffuse congenital hyperinsulinism has radically changed the surgical approach to this disease. Until recently, highly invasive investigations were performed to localize the focal lesion, but recent experience with ¹⁸F-L-dopa positron emission tomography scanning suggests that this technique is highly sensitive for differentiating diffuse from focal disease as well as for accurately locating the focal lesion. Despite recent advances, the genetic basis of congenital hyperinsulinism is still unknown in about 50% of the patients, and the management of medically unresponsive diffuse disease remains a real challenge.

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“…42 The eye manifestations of excessive tearing, redness, pain, and photophobia may occur before skin lesions. Corneal lesions usually occur during the first few months of life.…”

Section: Htt-ii (Richner-hanhart Syndrome or Oculocutaneous Tyrosinemia)mentioning

confidence: 99%

Current management options for tyrosinemia

El‐Shabrawi¹,

Kamal²

2013

ODRR

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Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal recessive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathognomonic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are considered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or magnetic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma.

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Hyperinsulinism in tyrosinaemia type I

Cited by 48 publications

References 15 publications

Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah−/− knockout mice model

Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah−/− knockout mice model

Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy

Current management options for tyrosinemia

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