Tyrosinemia: a report of three cases from India
- PDF / 100,509 Bytes
- 4 Pages / 595.276 x 790.866 pts Page_size
- 80 Downloads / 161 Views
SE SERIES
Tyrosinemia: a report of three cases from India Ira Shah
Received: 31 August 2012 / Accepted: 27 December 2012 / Published online: 14 February 2013 # Indian Society of Gastroenterology 2013
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.
succinylacetone (SA) and succinylacetoacetate (SAA) which is found in the urine of infants with this condition [3]. Tyrosinemia type 1 has rarely been reported from India [4, 5]. We report three children with tyrosinemia 1 from India with increased blood tyrosine by plasma high-performance liquid chromatography, high alphafetoprotein, elevated SA in urine detected by urine gas chromatography/mass spectroscopy, and with liver and renal disease, and rickets.
Keywords Children . India . Tyrosinemia Case report Case 1 Introduction Tyrosinemia is characterized by elevated blood tyrosine levels and is seen in transient tyrosinemia of the newborn, hereditary infantile tyrosinemia (tyrosinemia I), RichnerHanhart syndrome (tyrosinemia II), and tyrosinemia III [1]. Type I tyrosinemia, also called hepatorenal tyrosinosis, is a severe inborn metabolic autosomal recessive disorder affecting the tyrosine degradation pathway and presents with liver disease or liver failure with predominant bleeding tendency, Fanconi syndrome, and/or rickets [2]. It is caused by a mutation in the gene encoding for the fumarylacetoacetate hydrolase (FAH) enzyme which is an enzyme in the tyrosine degradation pathway. Deficiency of this enzyme causes intracellular accumulation of fumarylacetoacetate (FAA). Intracellular FAA is rapidly degraded to
I. Shah (*) Pediatric Hepatobiliary Clinic, B J Wadia Hospital for Children, 1/B Saguna, 271/B St Francis Road, Vile Parle (W), Mumbai 400 056, India e-mail: [email protected]
A 2-year-old boy born of a third-degree consanguineous marriage, the fifth of five siblings, presented in 2007 with abdominal distension for 7 months and delayed motor milestones. There was no jaundice. He was born by cesarean section at full-term and had to stay in the Neonatal Intensive Care Unit for 15 days for meconium aspiration. He was currently able to walk with support, speech and language milestones were normal. He was immunized till date. All other siblings were well except the third male sibling who died at 1 year of age due to fever. On examination, he was short [height=73 cm,
Data Loading...
