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Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

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Maple syrup urine disease (MSUD) is caused by a defect in branched chain alpha-ketoacid dehydrogenase complex (BCKD), an essential metabolon for the catabolism of the branched chain amino acids. Here, we report four novel mutations in the DBT gene, encoding the transacylase subunit (E2) of BCKD,

[Intermittent maple syrup urine disease in a 12-year-old boy: clinical aspects, diagnosis and treatment].

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A variant form of maple syrup urine disease (grade II) in a twelve year old boy is reported. The clinical picture was characterized by seizure-like episodes of confusion and intermittent ataxia. The diagnosis was made by showing an increased excretion of branched-chain alpha-hydroxy acids as well as

Ataxia.

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The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation. The

Dihydrolipoamide Dehydrogenase Deficiency

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Clinical characteristics: The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset liver involvement and, rarely, a myopathic

Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.

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Intermittent maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by a deficiency of branched chain α-ketoacid dehydrogenase (BCKD) complex. In contrast to classic MSUD, children with the intermittent form usually have an atypical clinical manifestation. Here,

Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.

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Maple syrup urine disease (MSUD) is an inherited aminoacidopathy caused by a deficiency in branched-chain α-keto acid dehydrogenase complex activity that leads to the accumulation of the branched-chain amino acids (BCAAs) leucine (Leu), isoleucine, and valine and their respective α-keto-acids,

[A mild variant case of maple syrup urine disease].

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We reported a mild variant case of maple syrup urine disease. He was unable to walk alone at 2 years of age and developed seizures and intermittent ataxia at 5 years of age. Activity of 1-14C-leucine decarboxylase in fibroblasts revealed 40% of normal activity in the boy and 90% in the mother. MRI

Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant.

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Severe neurological symptoms, including intermittent ataxia, hallucinations and convulsions, associated with metabolic acidosis and branched-chain amino-acidemia occurred in a six-year-old girl with a variant form of maple syrup urine disease. The symptoms only appeared during periods of infection.

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

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Maple syrup urine disease is a rare autosomal-recessive aminoacidopathy, caused by deficient branched-chain 2-keto acid dehydrogenase (BCKD), with subsequent accumulation of branched-chain amino acids (BCAAs): leucine, isoleucine and valine. While most cases of MSUD are classic, some

The Anaesthetic Management of a Patient with Maple Syrup Urine Disease.

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Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain aminoacids. It leads to a build-up of leucine, isoleucine, valine, and toxic metabolites in blood and urine, progressing to acute and chronic brain

Intermittent maple syrup urine disease: two case reports.

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The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain α-keto acid dehydrogenase, the enzyme complex that decarboxylates the

In vivo neuroprotective effect of L-carnitine against oxidative stress in maple syrup urine disease.

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Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of metabolism caused by deficiency of the activity of the mitochondrial enzyme complex branched-chain α-keto acid dehydrogenase (BCKAD) leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine and

High resolution protein mapping in fibroblast cell lines and hair roots from patients with genetic disease.

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Protein patterns of cultured fibroblast and hair root lysates from healthy controls and patients with genetic diseases (Duchenne muscular dystrophy, Friedreich's ataxia, Marie's ataxia, Lesch-Nyhan syndrome, maple syrup urine disease, and trisomy 13, 18 and 21) were obtained with two-dimensional

Transient left ventricular hypertrophy in a 30-year-old female with chronic emotional stress and depression treated with venlafaxine.

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Transient left ventricular hypertrophy or thickening (TLVH/T) is a phenomenon rarely observed in some patients with myocarditis and stress-induced takotsubo syndrome (TTS). Initial presentation on echocardiography can mimic hypertrophic cardiomyopathy (HCM), sometimes with a decreased

A neurological disease with spongy degeneration in a newborn Japanese black calf.

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A Japanese Black calf, 3 day-old male, showed severe ataxia, lateral recumbency, and opisthotonos at the birth. Histopathological examinations revealed severe status spongiosis throughout the central nervous system. Numerous vacuoles within the neuropile varying in size and shape were observed in
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