Dietary Management of Oculocutaneous Tyrosinemia in an 11-Year-Old Child

Ney, Denise M.

doi:10.1001/archpedi.1983.02140360055018

Cited by 7 publications

(7 citation statements)

References 14 publications

(1 reference statement)

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“…NTBC doses of 0.5-2 mg/day were shown to reduce HGA levels nearly 95%, but the three-year study was not able to show a change in the progression of symptoms, including joint deterioration (Introne et al 2011). There has been caution about using higher doses out of concern that high tyrosine levels associated with NTBC treatment will lead to corneal crystal deposits and ocular complications, though several studies have shown that high tyrosine itself does not appear correlated to ocular problems and that some patients are able to tolerate plasma tyrosine levels of over 1,000 mM (Ney et al 1983;Holme and Lindstedt 1998;Gissen et al 2003).…”

Section: Introductionmentioning

confidence: 99%

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria

et al. 2015

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Alkaptonuria is an autosomal recessive disease involving a deficiency of the enzyme homogentisate dioxygenase, which is involved in the tyrosine degradation pathway. The enzymatic deficiency results in high concentrations of homogentisic acid (HGA), which results in orthopedic and cardiac complications, among other symptoms. Nitisinone (NTBC) has been shown to effectively treat alkaptonuria by blocking the conversion of 4-hydroxyphenylpyruvate to HGA, but there have been concerns that using doses higher than about 2 mg/day could cause excessively high levels of tyrosine, resulting in crystal deposition and corneal pathology. We have enrolled seven patients in a study to determine whether higher doses of NTBC were effective at further reducing HGA levels while maintaining tyrosine at acceptable levels. Patients were given varying doses of NTBC (ranging from 2 to 8 mg/day) over the course of between 0.5 and 3.5 years. Urine HGA, plasma tyrosine levels, and plasma NTBC were then measured longitudinally at various doses. We found that tyrosine concentrations plateaued and did not reach significantly higher levels as NTBC doses were increased above 2 mg/day, while a significant drop in HGA continued from 2 to 4 mg/day, with no significant changes at higher doses. We also demonstrated using untargeted metabolomics that elevations in tyrosine from treatment resulted in proportional elevations in alternative tyrosine metabolic products, that of N-acetyltyrosine and γ-glutamyltyrosine.

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Section: Introductionmentioning

confidence: 99%

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria

et al. 2015

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“…45 It is necessary to achieve a total intake of phenylalanine and tyrosine , 100 mg/kg/day to obtain plasma concentrations of tyrosine , 10 mg/dL. 95 Patients respond to vitamin A supplementation with clearing of the skin lesions, and they should also be given a trial of pyridoxine phosphate. Mental retardation may be prevented by early dietary restriction of tyrosine.…”

Section: Htt-iimentioning

confidence: 99%

Current management options for tyrosinemia

El‐Shabrawi¹,

Kamal²

2013

ODRR

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Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal recessive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathognomonic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are considered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or magnetic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma.

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“…Le SRH est une affection rare, rapportée dans différents groupes ethniques, et particulièrement dans les pays méditerranéens ou arabes [36,79,113,123,142]. Ce syndrome a été également décrit aux États-Unis [108], en Allemagne [10], au Japon [134].…”

Section: Syndrome De Richner-hanhart (Srh) Ou Tyrosinemie Type IIunclassified

“…L'évolution de la kératodermie est cyclique, spontanément favorable en quelques semaines à quelques mois. Une influence saisonnière est parfois notée avec une améliora-tion estivale [108].…”

Section: Syndrome De Richner-hanhart (Srh) Ou Tyrosinemie Type IIunclassified

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Les kératodermies palmo-plantaires héréditaires

Mokni¹,

Triki²,

Guedamsi³

et al. 2005

Med Chir Pied

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Les kératodermies palmo-plantaires (KPP) sont un groupe hétérogène de maladies cutanées, caractérisées par une hyperkératose des paumes et des plantes, parmi lesquelles on distingue trois groupes : KPP héréditaires, génodermatoses avec KPP et KPP acquises. Les KPP héré-ditaires sont classées selon le mode de transmission, l'aspect clinique et le type d'hyperkératose (diffus, focal ou ponctué), l'atteinte d'autres structures ectodermales, la présence ou l'absence de symptômes associés non ectodermaux, les données histologiques et la physiopathologie. Nous présentons un bilan des connaissances actuelles sur les principales KPP héréditaires.Abstract: Palmoplantar keratoderma (PKK) refers to a genetically heterogenous group of skin diseases characterised by hyperkeratosis of the palms and soles. They can be subdivided into three groups: hereditary PPK, genodermatosis with PPK and aquired PPK. Hereditary forms are classified on the basis of the morphology, distribution of the kyperkeratosis (diffuse, focal or punctate), associated symptoms, mode of inheritance and histopathologic findings. We report a review of the principal hereditary PPK.

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Dietary Management of Oculocutaneous Tyrosinemia in an 11-Year-Old Child

Cited by 7 publications

References 14 publications

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria

Current management options for tyrosinemia

Les kératodermies palmo-plantaires héréditaires

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