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Tyrosinemia and intractable seizures.

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A child with intractable seizures from the age of 10 months and developmental retardation developed jaundice and hepatosplenomegaly at 23 months. She died at the age of 25 months. Methionine and tyrosine were elevated in urine, plasma, CSF, and brain. These elevations were more marked in the CNS

[A case of tyrosinemia type II with convulsion and EEG abnormality].

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A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and

[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].

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OBJECTIVE To analyze the clinical features and SLC25A13 gene mutations of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia. METHODS The patient was subjected to physical examination and routine laboratory tests. Blood amino acids and acylcarnitines, and

A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation.

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Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include

Nitisinone: new drug. Type 1 tyrosinemia: an effective drug.

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(1) Type 1 hereditary tyrosinemia is a rare disease due to an enzyme deficiency. It is associated with life-threatening liver disorders, starting during the very first months of life. If left untreated (other than with a diet low in tyrosine and phenylalanine), most patients die during childhood.

Genetic differences in the effects of delta-aminolevulinic acid on seizure latency in mice.

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delta-Aminolevulinic acid, an intermediate in heme formation, is elevated in certain human disorders including acute intermittent porphyria, tyrosinemia, and lead poisoning. It has been implicated in the central nervous system manifestations of these disorders via interactions with the GABAergic

Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.

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BACKGROUND Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy. The aim of this study is to describe the clinical, biochemical, and histopathological findings in a group of Mexican HT1 patients and their

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.

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Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous symptoms with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report the clinical,

Severe neurological crisis in adult patients with Tyrosinemia type 1

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We report six adult patients with Tyrosinaemia type 1 (HT-1) who presented with recurrent porphyria-like neurological crises after discontinuation/interruption of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) treatment. The crises were life-threatening for some of the patients,

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

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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

Neuromuscular complication after liver transplant in children: a single-center experience.

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OBJECTIVE Neurologic complications are a significant cause of morbidity in children after liver transplant. In this study, we sought to evaluate the neurologic complications in children after liver transplant. METHODS All children aged younger than 18 years old who had undergone liver transplant

Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015.

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BACKGROUND Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence

[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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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

In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice.

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Tyrosinemia type 3, caused by a genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) in tyrosine catabolism, is characterized by convulsion, ataxia, and mental retardation. The III mouse is a model of tyrosinemia type 3. HPD activity and protein are defective in the liver and its

Analysis of magnetic resonance imaging findings of children with neurologic complications after liver transplantation.

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OBJECTIVE To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). METHODS A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using

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