Clinical practice

El‐Karaksy, Hanaa; Rashed, Mohmmad; El-Sayed, Rokaya; El-Raziky, Mona; El-Koofy, Nehal; El-Hawary, Manal; Al-Dirbashi, Osama Y.

doi:10.1007/s00431-009-1090-1

Cited by 36 publications

(9 citation statements)

References 11 publications

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“…AFP and liver imaging were used as tumor markers. One patient was treated with diet protein restriction due to unavailability of NTBC on diagnosis; and 15 patients were treated with NTBC (initially 1 mg/kg/day in 2 divided doses, the dose thereafter was adjusted according to clinical response ranging 0.5 - 2 mg/kg/day) ( 8 , 9 ). Prescribed diet consisted of avoiding high protein, continuing breast feeding and employing a special milk formula.…”

Section: Methodsmentioning

confidence: 99%

Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya

Alobaidy

Barkaoui

2015

Iran J Pediatr

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Background:Hereditary Tyrosinemia type I (HTI) is a metabolic disease caused by deficiency of fumarylacetoacetate hydrolase enzyme.Objectives:This study reports beside its clinical and biochemical presentation, the outcome of NTBC [2- (2-nitro-4-trifloro-methylbenzoyl)-1, 3-cyclohexanedion] treatment of the disease and evaluates its biochemical markers in 16 pediatric Libyan patients.Patients and Methods:The diagnosis was based on presence of high tyrosine levels in blood and succinylacetone in urine.Results:The consanguinity rate was 81.2%, the median age at onset, at diagnosis and at starting treatment were 4.5, 8, and 9.5 months respectively. At presentation hepatomegaly, jaundice, rickets and high gamma glutamyl transferase (GGT) were observed in 87.5% of patients. All patients had extremely high alpha fetoprotein (AFP) and high alkaline phosphatase (ALP) levels. Fifteen patients were treated with NTBC, normalization of PT (Prothrombine time) was achieved in average in 14 days. The other biochemical parameters of liver function (transaminases, GGT, ALP, bilirubin and albumin) took longer to improve and several months to be normalized. Survival rate with NTBC was 86.6%. Patients who started treatment in a median of 3 months post onset observed a fast drop of AFP in 90.6% of patients (P = 0.003). Abnormal liver function and rickets were the common presentations, GGT was an early cholestatic sensitive test. ALP was constantly high even in asymptomatic patients.Conclusions:In HT1 a faster dropping of AFP is a marker of good prognosis.

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Section: Methodsmentioning

confidence: 99%

Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya

Alobaidy

Barkaoui

2015

Iran J Pediatr

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“…Others use a value greater than 40 μM [C De Laet and P Goyens personal communication]. However lower doses of nitisinone have been found to be effective [24,25]. In one case the serum nitisinone concentration was only maintained above 30 μmol/l [24] with apparently good metabolic control.…”

Section: Long Term Managementmentioning

confidence: 99%

“…However lower doses of nitisinone have been found to be effective [24,25]. In one case the serum nitisinone concentration was only maintained above 30 μmol/l [24] with apparently good metabolic control. Whatever the dose, complete suppression of succinylacetone concentrations is essential.…”

Section: Long Term Managementmentioning

confidence: 99%

Recommendations for the management of tyrosinaemia type 1

Laet

Dionisi‐Vici

Leonard³

et al. 2013

Orphanet J Rare Dis

196

231

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The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.

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“…Plasmatic NTBC monitoring is necessary, because patients need surveillance of concentration for optimal dosage adaptation and for pharmacokinetic studies [5,6]. NTBC is rapidly absorbed with an approximate half life of 54 h. Therapeutic plasmatic concentrations are 15-40 mol/L and Spanish guidelines recommend its determination every three months, together with methionine, tyrosine and succinylacetone [7].…”

Section: Introductionmentioning

confidence: 99%