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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Does The Following Lover Biopsy Report Suggest?

Dead Dr. 4month baby girl having jaundice and clay stool since age of 2 month. Did many test, liver biopsy and muscle biopsy Now result are as follows: alkaline phosphatase 557, SGOT 1034, SGPT 678, GGT 21, direct bilirubin 5.16, total bilirubin 5.94. Both biopsy didnt diagnos the case and asked for more correlation testing like aminoacid test Family history of giant cell hepatitis Any advice?
Tue, 22 Nov 2016
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General & Family Physician,  's  Response
Hi,
Thanks for posting in HCM.
I understand your concern.
Based on the description and laboratory report you have furnished, the following things can be considered.
1. From the liver function test report, there is clear evidence of jaundice due to raised Bilirubin levels.
2. There is evidence of hepatocellular dysfunction due to increase in all the liver enzymes.
Since you are starting that liver and muscle biopsy are inconclusive and details are not furnished, this could be a case of disorder of amino acid metabolism as 'inborn error', considering the age of the presentation of symptoms.
Kindly get screening test done to detect inborn errors in amino acid metabolism and consult neonatologist with the report for clinical evaluation and management.
Hope the information provided would be helpful.
All the best.
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What Does The Following Lover Biopsy Report Suggest?

Hi, Thanks for posting in HCM. I understand your concern. Based on the description and laboratory report you have furnished, the following things can be considered. 1. From the liver function test report, there is clear evidence of jaundice due to raised Bilirubin levels. 2. There is evidence of hepatocellular dysfunction due to increase in all the liver enzymes. Since you are starting that liver and muscle biopsy are inconclusive and details are not furnished, this could be a case of disorder of amino acid metabolism as inborn error , considering the age of the presentation of symptoms. Kindly get screening test done to detect inborn errors in amino acid metabolism and consult neonatologist with the report for clinical evaluation and management. Hope the information provided would be helpful. All the best.