Indian J Gastroenterol. 2013 Feb 14. [Epub ahead of print]

Tyrosinemia: a report of three cases from India.

Shah I.

Source: Pediatric Hepatobiliary Clinic, B J Wadia Hospital for Children, 1/B Saguna, 271/B St Francis Road, Vile Parle (W), Mumbai, 400 056, India, irashah@pediatriconcall.com.

Abstract: Tyrosinemia has rarely been reported from India due to lack of diagnostic facilities. We present three children, two boys and one girl, who presented with rickets and hepatomegaly. They had increased plasma and urine tyrosine levels, renal tubular acidosis, large kidneys, elevated urine succinylacetone, and chronic liver disease. Two patients also had elevated alpha-fetoprotein but no evidence of hepatocellular carcinoma. All patients are on low tyrosine-phenylalanine diet and on regular follow up.

http://www.ncbi.nlm.nih.gov/pubmed/23408258
PMID: 23408258 [PubMed - as supplied by publisher]