1. Metabolic Liver Disease
- getting the definitions right
Dr. Ashish Bavdekar
Associate Professor
Consultant Ped. Gastroenterologist
K.E.M. Hospital, Pune
bavdekar@vsnl.com

2. The liver has a limited repertoire of responses

3. A B C
D E

4. Functional classification of MLDs
• No harmful effect
• Liver morphologically N, largely undamaged but
severe effects on other organs
– Aminoacidopathies, CNS, PHO
• Some morphological effects in liver but principal
damage on other organs
– UCD, GSD VI/IX
• Slow liver damage in childhood but major effects
on other systems
– GSD I/III
• Significant liver injury in infancy and childhood
– Galactosemia, Tyrosinemia, WD, etc

5. • Defect confined to liver
– Tyrosinemia
– WD
– PFIC II/III
– GSD I
• Defect not confined to liver
– Cystic fibrosis
– GSD III
– LSDs
– PFIC I

6. CLD in India
N=809, Average of Pooled data (Six Medical Centres)
7%
11% Unknown
41%
??? Metabolic
19%
22% Wilson's
Others
Auto immune

7. PATTERN OF LIVER DISEASE AT KEM HOSPITAL, PUNE
(1980-2010)
AVERAGE ANNUAL INCIDENCE (cases / year)
LIVER DISEASE 1980-84 85-89 90-94 95-99 2000-2010
Indian Childhood Cirrhosis 37 23 4 2 1
Wilson’s Disease 2 4 7 14 22
Metabolic liver disease 2 5 10 20 38
Neonatal Cholestasis 9 10 28 42 58
Chronic Hepatitis 9 6 7 8 12
Miscellaneous 18 9 13 23 32
TOTAL 77 57 69 109 174

8. MLD – Early presentation
• Galactosemia • PFIC
• Tyrosinemia • Bile acid defects
• Alpha-1-AT defic. • Fructosemia
• Niemann Pick C • Peroxisomal diseases
• Cystic fibrosis • Wolman’s disease
• NN Hemochromatosis • Mitochondrial disorders

9. MLD – Later presentations
• Glycogen storage disease
• Wilson’s disease
• Lipid storage – Gaucher’s, Niemann-Pick
• Congenital disorders of
glycosylation
• MPS
• Cystic fibrosis
• Tyrosinemia

10. Metabolic liver disease
Problems in diagnosis
* Considered rare
* Signs and symptoms non specific
* Sepsis may accompany MLD
* Though hereditary, sporadic cases
* Genetic heterogenecity
* Lack of diagnostic facilities

11. Suspect metabolic liver disease ?
• Family history / consanguinity
• Developmental delay, recurrent episodes
• Early liver failure, encephalopathy
• Massive H/Smegaly but no jaundice
• Rickets, dysmorphism, FTT, eye
• Hypoglycemia, severe coagulopathy
• Liver biopsy - steatosis

12. Presentation of MLDs
• Liver failure
• Encephalopathy or Reye-like
• Chronic cholestasis
• Hepatomegaly/Splenomegaly
• Unconjugated jaundice

13. SUMMARY
* Individually rare, collectively common
* High index of suspicion
* Development of diagnostic facilities
* Long term outcome