Metabolic Disorder

2020 ◽  
Author(s):  
Keyword(s):  
Metabolic Disorder

CATIE Results Show Overlap of Schizophrenia, Metabolic Disorder

2007 ◽  
Vol 35 (8) ◽  
pp. 18
Author(s):  
TIMOTHY F. KIRN
Keyword(s):  
Metabolic Disorder

Diabetes mellitus – a devastating metabolic disorder

2015 ◽  
Vol 4 (40) ◽  
pp. 1-7 ◽  
Author(s):  
M.N. Piero
Keyword(s):  
Diabetes Mellitus ◽  
Metabolic Disorder

Methylmalonic acidaemia: a rare metabolic disorder in pregnancy

2004 ◽  
Vol 24 (8) ◽  
pp. 927-928 ◽  
Author(s):  
OA Adeyemi ◽  
T Girish ◽  
S Mukhopadhyay ◽  
SA Olczak ◽  
Z Ahmed
Keyword(s):  
Metabolic Disorder ◽  
Methylmalonic Acidaemia ◽  
Rare Metabolic Disorder ◽  
In Pregnancy

scholarly journals Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fahad Alabbas ◽  
Ghaleb Elyamany ◽  
Talal Alanzi ◽  
Tahani Bin Ali ◽  
Fatma Albatniji ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Metabolic Disorder ◽  
Clinical Signs ◽  
Failure To Thrive ◽  
Severe Infection ◽  
Signs And Symptoms ◽  
Immune Deficiency Syndrome ◽  
Autoimmune Disorder ◽  
Deficiency Syndrome ◽  
Homozygous Deletion

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients include fever, hepatosplenomegaly, cytopenia, and hyperferritinemia. Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder. Wolman’s disease (WD) is a rare and fatal infantile metabolic disorder caused by lysosomal acid lipase deficiency, that exhibits similar clinical signs and symptoms as HLH. This paper reports the case of an infant diagnosed with WD and who presented with sHLH. Case presentation A 4-month-old infant presenting with hepatosplenomegaly, failure to thrive, and other abnormalities. WD diagnosis was confirmed by the presence of the LIPA gene homozygous deletion c.(428 + 1_967-1)_(*1_?)del. The infant also met the HLH-2004 diagnostic criteria. Conclusions Metabolic disorder such as WD should be investigated in infants fulfilling the HLH criteria to diagnose the underlying condition. More studies are needed to understand the link between WD and sHLH and to identify appropriate therapies.

Asymptomatic Type II Hyperprolinemia Associated with Hyperglycinemia in Three Siblings

1974 ◽  
Vol 23 (S1) ◽  
pp. 345-347
Author(s):  
F. Mollica ◽  
L. Pavone ◽  
Harvey L. Levy
Keyword(s):  
Mental Retardation ◽  
Carboxylic Acid ◽  
Metabolic Disorder ◽  
Type Ii ◽  
Associated Anomalies ◽  
Rare Metabolic Disorder

Type II hyperprolinemia is a rare metabolic disorder associated with mental retardation, seizures, and EEG anomalies.The authors describe a Sicilian family, detected screening for aminoacidopathies by the method of Scriver, in which three siblings have high levels of serum proline and urinary pyrroline-5-carboxylic acid, without any signs of associated anomalies.

Brexpiprazole caused glycolipid metabolic disorder by inhibiting GLP1/GLP1R signaling in rats

2021 ◽  
Author(s):  
De-juan Li ◽  
Qin Yue ◽  
Lu Liu ◽  
Ke-ke Che ◽  
Xue-mei Liu ◽  
...  
Keyword(s):  
Metabolic Disorder

scholarly journals Revisiting preeclampsia: a metabolic disorder of the placenta

FEBS Journal ◽  
2021 ◽  
Author(s):  
Mingyu Hu ◽  
Ji Li ◽  
Philip N. Baker ◽  
Chao Tong
Keyword(s):  
Metabolic Disorder
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