Updates in Metabolic Liver Diseases in Infants and Children
Fathiya Mohamed I. Emhammed;
Abstract
The liver has complex metabolic functions with a central role in various aspects of protein, lipid and carbohydrate metabolism, homeostasis, and detoxification. It is not surprising, therefore, that the liver is involved in many metabolic disorders, either directly when a specific mutation affects the function of a specific enzymatic pathway or secondarily.
Clinical manifestations that suggest the possibility of metabolic liver disease include the following:
1. Recurrent vomiting, failure to thrive, short stature, dysmorphic features.
2. Jaundice, hepatomgaly (+ splenomegaly), fulminant hepatic failure.
3. Hypoglycemia, organic acidemia, lactic acidemia, hyperammonemia, bleeding (coagulopathy).
4. Developmental delay/psychomotor retardation, hypotonia, progressive neuromuscular deterioration and seizures.
5. Cardiac dysfunction/ failure, unusual odors, rickets and cataract.
In this essay, review of current and recent literature regarding update methods of diagnosis and management of metabolic liver diseases was done.
Some of the recent methods of the screening and diagnosis of metabolic liver diseases are:
- Using of micro fluidic chips coupled with copper nano wires (Cu NWs) as electro chemical detectors for faster diagnosis of galactosemia using newborn urine samples.
- Measurement of cholesterol oxidation products (oxysterol) in human plasma, as a sensitive and specific markers for NPC screening method.
- Molecular testing in CF, WD, fructosemia and GSD type 1.
Some of the recent methods in the management of metabolic liver diseases which are included in this essay are:
- Preservation of fertility in classic galactosemia females through cryopreservation of ovarian tissue.
- Use of modified corn starch (Glycosade) alternative to traditional corn starch preparation in the treatment of GSD.
- Gene therapy in the treatment of GSD-1a.
- Glycerol phenyl butyrate to improve the executive function in UCD patients.
- Treat NPC disease using histone deacetylase (HDAC) inhibitors.
- Therapeutic erythrocytapheresis (TE) in HHC disease treatment.
Clinical manifestations that suggest the possibility of metabolic liver disease include the following:
1. Recurrent vomiting, failure to thrive, short stature, dysmorphic features.
2. Jaundice, hepatomgaly (+ splenomegaly), fulminant hepatic failure.
3. Hypoglycemia, organic acidemia, lactic acidemia, hyperammonemia, bleeding (coagulopathy).
4. Developmental delay/psychomotor retardation, hypotonia, progressive neuromuscular deterioration and seizures.
5. Cardiac dysfunction/ failure, unusual odors, rickets and cataract.
In this essay, review of current and recent literature regarding update methods of diagnosis and management of metabolic liver diseases was done.
Some of the recent methods of the screening and diagnosis of metabolic liver diseases are:
- Using of micro fluidic chips coupled with copper nano wires (Cu NWs) as electro chemical detectors for faster diagnosis of galactosemia using newborn urine samples.
- Measurement of cholesterol oxidation products (oxysterol) in human plasma, as a sensitive and specific markers for NPC screening method.
- Molecular testing in CF, WD, fructosemia and GSD type 1.
Some of the recent methods in the management of metabolic liver diseases which are included in this essay are:
- Preservation of fertility in classic galactosemia females through cryopreservation of ovarian tissue.
- Use of modified corn starch (Glycosade) alternative to traditional corn starch preparation in the treatment of GSD.
- Gene therapy in the treatment of GSD-1a.
- Glycerol phenyl butyrate to improve the executive function in UCD patients.
- Treat NPC disease using histone deacetylase (HDAC) inhibitors.
- Therapeutic erythrocytapheresis (TE) in HHC disease treatment.
Other data
| Title | Updates in Metabolic Liver Diseases in Infants and Children | Other Titles | الحديث في أمراض الكبد الأيضية عند الرضع والأطفال | Authors | Fathiya Mohamed I. Emhammed | Issue Date | 2014 |
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