منابع مشابه
Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
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...
متن کاملtype 1 tyrosinemia with hypophosphatemic rickets; a case report
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...
متن کاملTyrosinemia Type1: A case report
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...
متن کاملTyrosinemia type I: a clinico-laboratory case report.
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...
متن کاملGlutaric Acidemia Type 1: Case Report
Introduction: Glutaric academia type I is a metabolic disorder that is caused due to deficiency of glutaryl-CoA dehydrogenase. Macrocephaly is a common sign in GA1, although many infants usually appear healthy at birth. Case Report A 5.5 year old boy with GA1was admitted to NICU. Chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...
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ژورنال
عنوان ژورنال: Indian Journal of Child Health
سال: 2014
ISSN: 2349-6118,2349-6126
DOI: 10.32677/ijch.2014.v01.i03.015