scholarly journals Biochemical diagnosis of nonketotic hyperglycinemia in Cuba

2018 ◽  
Vol 33 (8) ◽  
pp. 549-550
Author(s):  
J. Contreras-Roura ◽  
I. Camayd-Viera ◽  
A.D. Padrón-Díaz ◽  
L. Martínez-Rey
2014 ◽  
Vol 122 (03) ◽  
Author(s):  
C Pamporaki ◽  
M Bursztyn ◽  
M Reimann ◽  
T Ziemssen ◽  
SR Bornstein ◽  
...  

2021 ◽  
Author(s):  
Laure Macraigne ◽  
Bichr Allaf ◽  
Christophe Buffat ◽  
Emmanuel Spaggiari ◽  
Georges Dimitrov ◽  
...  

2021 ◽  
Vol 10 (5) ◽  
pp. 1147
Author(s):  
Amit Akirov ◽  
Hiba Masri-Iraqi ◽  
Idit Dotan ◽  
Ilan Shimon

Background: The diagnosis of acromegaly still poses a clinical challenge, and prolonged diagnostic delay is common. The most important assays for the biochemical diagnosis and management of acromegaly are growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Objective: Discuss the role of IGF-1, basal serum GH, and nadir GH after oral glucose tolerance test (OGTT) for the diagnosis, management, and treatment of patients with acromegaly. Methods: We performed a narrative review of the published data on the biochemical diagnosis and monitoring of acromegaly. An English-language search for relevant studies was conducted on PubMed from inception to 1 January 2021. The reference lists of relevant studies were also reviewed. Results: Serum IGF-1 levels, basal GH values, and nadir GH after OGTT play a major role in the diagnosis, management, and treatment of patients with acromegaly. Measurement of IGF-1 levels is the key factor in the diagnosis and monitoring of acromegaly, but basal and nadir GH following OGTT are also important. However, several factors may significantly influence the concentrations of these hormones, including assay methods, physiologic and pathologic factors. In some cases, discordant GH and IGF-1 levels may be challenging and usually requires additional data and monitoring. Conclusion: New GH and IGF-1 standards are much more precise and provide more accurate tools to diagnose and monitor patients with acromegaly. However, all these biochemical tools have their limitations, and these should be taken under consideration, along with the history, clinical features and imaging studies, when assessing patients for acromegaly.


2015 ◽  
Vol 03 (04) ◽  
pp. 207-215
Author(s):  
Julia Hennermann

2021 ◽  
Author(s):  
Oya Kuseyri Hübschmann ◽  
Natalia Alexandra Julia Palacios ◽  
Mireia Olivella ◽  
Philipp Guder ◽  
Dimitrios I. Zafeiriou ◽  
...  

PEDIATRICS ◽  
1995 ◽  
Vol 95 (1) ◽  
pp. 142-146
Author(s):  
Satoshi Matsuo ◽  
Fumio Inoue ◽  
Yoshihiro Takeuchi ◽  
Hiroshi Yoshioka ◽  
Akihiko Kinugasa ◽  
...  

Nonketotic hyperglycinemia (NKH) is a rare inherited disease caused by a defect of the glycine cleavage enzyme.1 Especially in the neonatal type, neurological symptoms such as muscular hypotonia, seizures, respiratory distress, and lethargy develop rapidly, and the prognosis is unfavorable.1 Elevation of glycine in the cerebrospinal fluid (CSF) is thought to be responsible for these symptoms. However, management is quite difficult, because it is not well understood how elevation of glycine causes these symptoms. Lowering of the glycine level in CSF with sodium benzoate is not enough to avoid severe psychomotor and mental retardation. The N-methyl-D-aspartate (NMDA) receptor, which is one of the excitatory amino acid receptors, has a glycine binding site.2


1978 ◽  
Vol 15 (2) ◽  
pp. 85-88
Author(s):  
Creig S Hoyt ◽  
Richard A Brown

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