نتایج جستجو برای: tyrosinemia type ii.

تعداد نتایج: 1796109  

Journal: :medical journal of islamic republic of iran 0
ma javadi from the department of ophthalmology, labbafinejad medical center, shahid beheshti university of medical sciences, tehran sa mirdehghan a bagheri b einollahi y dowlati the center for research and education in skin disease and leprosy, p.o. box 14155-6383, tehran, islamic republic of iran

tyrosinemia type ii is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. this article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.

Introduction: Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme. Case Report: We report a 7-year-old female patient with complaints of hyperkeratosis lesions of palms and soles which started 3 years ago. Chromatography of serum amino acids showed a tyrosine...

A BAGHERI, B EINOLLAHI, MA JAVADI, SA MIRDEHGHAN, Y DOWLATI,

Tyrosinemia type II is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. This article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.

Journal: :international journal of pediatrics 0
peyman eshraghi department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, iran. foad faroughi student research committee, faculty of medicine, mashhad university of medical sciences, mashhad, iran. mohammad karim alizadeh student research committee, faculty of paramedicine, mashhad university of medical sciences, mashhad, iran.

background: tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. it is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (fah) enzyme, the final enzyme in the tyrosine degradation pathway. the disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...

Journal: :The Turkish journal of pediatrics 2011
Güzin Iskeleli Mustafa Değer Bilgeç Ceyhun Arici Eray Atalay Tülin Oğreden Ahmet Aydin

Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of bilateral photophobia and tearing, which started during the infancy period. Biomicroscopic examination revealed bilateral circular corneal opacities ...

Journal: :Indian journal of pediatrics 2004
Deepali Karnik Niranjan Thomas C E Eapen A K Jana A Oommen

Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib. Classical tyrosinemia type I arises from a deficiency of fumarylacetoacetate hydrolase w...

Journal: :Balkan medical journal 2016
Habibe Koç Uçar Gökhan Tümgör Deniz Kör Fatih Kardaş Neslihan Önenli Mungan

BACKGROUND Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatmen...

Foad Faroughi, Mohammad Karim Alizadeh Peyman Eshraghi,

Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...

Journal: :Proceedings of the National Academy of Sciences 1992

2011
Mohmood M. Rashad Carmen Nassar

Tyrosinemia type 1 is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase enzyme. Here we report an eight month-old male Saudi infant who presented with jaundice, fever, and disturbed level of consciousness accompanied by abdominal distension, hepatomegaly and ascites with features suggestive of rickets. The diagnosis of tyrosinemia typ 1was confirmed bas...

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