الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Summary and Conclusion
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.
Summary and Conclusion
125
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
Summary and Conclusion
126
function in UCD patients.
- Treat NPC disease using histone deacetylase (HDAC)
inhibitors.
- Therapeutic erythrocytapheresis (TE) in HHC disease
treatment.
- Minihepcidines therapy prevent iron loading in mouse
model of severe hemochromatosis.
- Correction of liver disease following transplantation of
normal rat hepatocytes into a rat model of WD.
- Prevention of CN1 disease in a model neonatal mouse by
an adeno- associated virus based gene therapy.
In conclusion, metabolic liver diseases are relatively common
and should be suspected in every infant or child with the
previously mentioned clinical features.
The availability of effective treatments, has a dramatic
impact on the prognosis of metabolic liver diseases in both
childhood and adult life, further emphasizing the importance of
early diagnosis.
Our understanding of molecular basis of metabolic liver
diseases will have the most important impact in precise
diagnosis and management.