tyrosinemias/urlacan

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A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

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Logáil Isteach / Cláraigh

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.

Neurological crisis mimicking acute pancreatitis in tyrosinemia type I.

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Logáil Isteach / Cláraigh

Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. Neurological manifestations have been reported in nearly half of patients during illness to have characteristics of altered consciousness, weakness, anorexia, vomiting, and pain in the extremities and

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

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Logáil Isteach / Cláraigh

BACKGROUND Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase. HT1 manifests with severe liver and kidney impairment and associates with an increased risk of liver cancer development. The aim of our study

Clinical Review Report: Nitisinone (Nitisinone Tablets): (Cycle Pharmaceuticals Ltd.): Indication: For the treatment of patients with hereditary tyrosinemia type 1 in combination with dietary restriction of tyrosine and phenylalanine

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Logáil Isteach / Cláraigh

Hereditary tyrosinemia type 1 (HT-1) is a rare, autosomal recessive disorder of amino acid metabolism. The deficiency of fumarylacetoacetate hydrolase (FAH), which is the last enzyme in the pathway of tyrosine catabolism, results in the accumulation of toxic metabolites in the FAH-deficient

Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.

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Logáil Isteach / Cláraigh

Tyrosinemia type l is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, vomiting,

Neurologic crises in hereditary tyrosinemia.

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Logáil Isteach / Cláraigh

Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. The disease is known to cause acute and chronic liver failure, renal Fanconi's syndrome, and hepatocellular carcinoma. Neurologic manifestations have been reported but not emphasized as a common problem. In

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

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Logáil Isteach / Cláraigh

BACKGROUND Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms. METHODS We report two Saudi siblings with TT1. Case 1

Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.

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Logáil Isteach / Cláraigh

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

Dietary Considerations in Tyrosinemia Type I.

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Logáil Isteach / Cláraigh

Since the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), life expectancy of HT1 patients greatly improved. However, due to treatment with NTBC, tyrosine concentrations greatly increase. As a consequence to possible neurocognitive problems, the main objective of

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause.

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Logáil Isteach / Cláraigh

BACKGROUND Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE The early

delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman.

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Logáil Isteach / Cláraigh

delta-Aminolevulinic acid dehydratase deficiency porphyria (ALAD porphyria, ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman is reported. The patient was admitted to our hospital complaining of slight cough with low-grade fever, and treated with

[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China].

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Logáil Isteach / Cláraigh

OBJECTIVE The new technology of tandem mass spectrometry is exerting a significant impact on the diagnostics of inborn metabolic errors, and allows to detect a number of these disorders in a single step. The aim of the present study was to establish a dry blood filter paper method for amino acid and

Effects of long-term oral administration of polymeric microcapsules containing tyrosinase on maintaining decreased systemic tyrosine levels in rats.

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Logáil Isteach / Cláraigh

There is no effective treatment for melanoma, a fatal skin cancer occurring with increasing frequency. Dietary tyrosine restriction lowers systemic tyrosine and suppresses the growth of melanoma in mice, but this is not tolerated by human resulting in nausea, vomiting, and weight loss. We report

Triketone toxicity: a report on two cases of sulcotrione poisoning.

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Logáil Isteach / Cláraigh

BACKGROUND Sulcotrione is a herbicidal agent belonging to the family of triketones. Sulcotrione herbicides are used for weed control in maize and flax crops. To date, no cases of human poisoning had been reported in the literature linked to different herbicidal agents in the triketone family. We

Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.

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Logáil Isteach / Cláraigh

Hawkinsinuria is a severe inherited condition that has a significant impact on the health of infants. The disease manifests as metabolic acidosis that significantly slows the growth rate and induces persistent diarrhea and vomiting. Though other causes may exist, an autosomal dominant mutation that

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