title: Tyrosinemia: a report of three cases from India.
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.
authors: 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
authors: Ira
authors: I
authors: Shah
mesh_terms: D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D006529:Hepatomegaly / Q000209:etiology*; D006537:Heptanoates / Q000652:urine; D006801:Humans; D007194:India; D007223:Infant; D007674:Kidney Diseases / Q000150:complications; D008297:Male; D012279:Rickets / Q000209:etiology*; D014443:Tyrosine / Q000097:blood / Q000652:urine; D020176:Tyrosinemias / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy*; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D006537:Heptanoates; D000509:alpha-Fetoproteins; D014443:Tyrosine; C020804:succinylacetone