Publication

Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma

2001
Reports

Abstract

A patient with carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b) is reported. The patient presented at 5 months of age with failure to thrive, prolonged diarrhoea, hepatomegaly and elevated serum liver transaminases. Liver biopsy showed steatosis. A low serum albumin and elevated serum liver transaminases persisted throughout childhood during which he had repeated infectious illnesses. From the age of 10 years he had oesophageal and duodenal ulceration together with recurrent bacterial cholangitis. Liver biopsy demonstrated hepatic fibrosis. CDGS1b was suspected, supported by the finding of a protein-losing enteropathy and finally confirmed by showing a reduced phosphomannoseisomerase activity. This case illustrates a rare condition with a wide range of presentations. [on SciFinder (R)]

Official source

https://infoscience.epfl.ch/entities/publication/b8ad78fb-35e7-4775-8f15-efd7d102d08b

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2001
Reports

Abstract

Official source

https://infoscience.epfl.ch/entities/publication/b8ad78fb-35e7-4775-8f15-efd7d102d08b

About this result

Related concepts (31)

Non-alcoholic fatty liver disease

Metabolic (dysfunction) associated fatty liver disease (MAFLD) was previously known as non-alcoholic fatty liver disease (NAFLD) until renamed in 2023 by a global consensus panel composed mostly of hepatology researchers and clinicians. The term metabolic dysfunction-associated steatotic liver disease (MASLD) is also used. MAFLD is excessive fat build-up in the liver without another clear cause such as alcohol use.

Fatty liver disease

Fatty liver disease (FLD), also known as hepatic steatosis, is a condition where excess fat builds up in the liver. Often there are no or few symptoms. Occasionally there may be tiredness or pain in the upper right side of the abdomen. Complications may include cirrhosis, liver cancer, and esophageal varices. There are two types of fatty liver disease: non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease. NAFLD is made up of simple fatty liver and non-alcoholic steatohepatitis (NASH).

Cirrhosis

Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is the impaired liver function caused by the formation of scar tissue known as fibrosis due to damage caused by liver disease. Damage to the liver leads to repair of liver tissue and subsequent formation of scar tissue. Over time, scar tissue can replace normal functioning tissue, leading to the impaired liver function of cirrhosis. The disease typically develops slowly over months or years.

Related publications (2)

Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma

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Hepatic viscoelastic parameters measured with MR elastography: correlations with quantitative analysis of liver fibrosis in the rat

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