Cargando…

Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1

SUMMARY: Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH). Two siblings with TT1 and acute liver dysfunction...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sotiridou, Ellada, Hoermann, Henrike, Aftab, Sommayya, Dastamani, Antonia, Thimm, Eva, Doodson, Louise, Batzios, Spyros, Kummer, Sebastian, Shah, Pratik
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2021
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849471/ https://www.ncbi.nlm.nih.gov/pubmed/33431709 http://dx.doi.org/10.1530/EDM-20-0174

Ejemplares similares

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
por: Clemente, María, et al.
Publicado: (2017)

Refractory spontaneous hypoglycaemia: a diagnostic conundrum
por: Cheah, Seong Keat, et al.
Publicado: (2018)

Post-bariatric hypoglycaemia diagnosed during pregnancy
por: Duggan, Dave, et al.
Publicado: (2023)

Insulinoma presenting with post-prandial hypoglycaemia following fundoplication
por: Qian, Sarah Y, et al.
Publicado: (2018)

Pro-IGF2-induced hypoglycaemia associated with hepatocellular carcinoma
por: van den Berg, S A A, et al.
Publicado: (2017)

Multifocal insulinoma secondary to insulinomatosis: persistent hypoglycaemia despite total pancreatectomy
por: Snaith, Jennifer R, et al.
Publicado: (2020)

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia
por: Loke, Kah-Yin, et al.
Publicado: (2016)

Autoimmune hypoglycaemia caused by alpha-lipoic acid: a rare condition in Caucasian patients
por: Veltroni, A, et al.
Publicado: (2018)

Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan
por: Loh, Wann Jia, et al.
Publicado: (2021)

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia
por: Roženková, Klára, et al.
Publicado: (2015)

Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia
por: Sivasubramanian, Madhini, et al.
Publicado: (2023)

Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation
por: Arya, Ved Bhushan, et al.
Publicado: (2019)

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
por: Aftab, Sommayya, et al.
Publicado: (2022)

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia
por: Haris, Basma, et al.
Publicado: (2020)

A case of a woman with late-pregnancy-onset DKA who had normal glucose tolerance in the first trimester
por: Himuro, Hiromi, et al.
Publicado: (2014)

Paraneoplastic hypoglycemia in a patient with a malignant solitary fibrous tumor
por: Mohammedi, Kamel, et al.
Publicado: (2014)

Two patients with a neuroendocrine tumour of the small intestine and paraneoplastic myasthenia gravis
por: Hermans, M A W, et al.
Publicado: (2014)

Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia
por: Rajpoot, Sudeep K, et al.
Publicado: (2014)

Phaeochromocytoma and Acromegaly: a unifying diagnosis
por: Mumby, C, et al.
Publicado: (2014)

IgG4-related thyroiditis: a case report and review of literature
por: Abo Salook, Mahmud, et al.
Publicado: (2014)

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy
por: Pikilidou, Maria, et al.
Publicado: (2014)

Bacterial meningitis as a first presentation of pituitary macroprolactinoma
por: Margari, Niki, et al.
Publicado: (2014)

Recurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet
por: Gunganah, Kirun, et al.
Publicado: (2014)

Burkitt's lymphoma presenting with hypopituitarism: a case report and review of literature
por: Foo, Siew Hui, et al.
Publicado: (2014)

A case of pituitary apoplexy in pregnancy
por: Hayes, Aimee R, et al.
Publicado: (2014)

Primary hyperparathyroidism due to atypical vertically long cystic adenoma
por: Kawashima, Sachiko-Tsukamoto, et al.
Publicado: (2014)

Synchronous GH- and prolactin-secreting pituitary adenomas
por: Rahman, Maryam, et al.
Publicado: (2014)

Rare association of acromegaly with left atrial myxoma in Carney's complex due to novel PRKAR1A mutation
por: Birla, Shweta, et al.
Publicado: (2014)

A ‘giant’ paraganglioma in the testis
por: Makris, Marinos C, et al.
Publicado: (2014)

Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour
por: Atapattu, N, et al.
Publicado: (2014)

Glucagonoma-induced acute heart failure
por: Zhang, Kun, et al.
Publicado: (2014)

A silent myocardial infarction in the diabetes outpatient clinic: case report and review of the literature
por: Draman, M S, et al.
Publicado: (2013)

Cushing's syndrome due to ectopic ACTH production by a nasal paraganglioma
por: Serra, F, et al.
Publicado: (2013)

Non-islet cell tumor-induced hypoglycemia: a report of five cases and brief review of the literature
por: Dutta, Pinaki, et al.
Publicado: (2013)

Don't forget your hammer if you want to go to work!
por: Draman, Mohd Shazli, et al.
Publicado: (2013)

Cushing's disease presenting with gastrointestinal perforation: a case report
por: Hara, Takuma, et al.
Publicado: (2013)

Late presentation of hyperandrogenism in pregnancy: clinical features and differential diagnosis
por: Das, Gautam, et al.
Publicado: (2013)

Pseudohypoaldosteronism type 1: clinical features and management in infancy
por: Amin, N, et al.
Publicado: (2013)

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
por: Chandran, Suresh, et al.
Publicado: (2013)

Medullary thyroid carcinoma and duodenal calcitonin-secreting neuroendocrine tumour: more than coincidence?
por: Huguet, I, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_n51ulfclp87erlko5rvmoou5gs