maple syrup urine disease/kutapika

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An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Classical maple syrup urine disease and brain development: principles of management and formula design.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Branched-chain ketoacid dehydrogenase deficiency results in complex and volatile metabolic derangements that threaten brain development. Treatment for classical maple syrup urine disease (MSUD) should address this underlying physiology while also protecting children from nutrient deficiencies. Based

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A 6-month-old girl with vomiting, hypotonia and motor retardation was found to have elevated blood lactate, pyruvate, and branched chain amino acids associated with ketoglutaric aciduria. The combination of a congenital lactic acidosis with a variant form of maple syrup urine disease and

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

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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

Maple syrup urine disease: report of two cases.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Two cases of maple syrup urine disease (MSUD) are reported. Case 1 was a 10-day-old male infant who had cyanotic episodes and recurrent generalized convulsions; the odor of burned sugar from the body and urine was also noted. Plasma and urine amino acid analysis disclosed a marked increase in the

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Acute metabolic decompensation (AMD) of maple syrup urine disease (MSUD) must be promptly recognized and treated. In this study, we aimed to identify simple variables associated with AMD in children with MSUD for use in emergency settings. Data were collected retrospectively from 115 emergency

Dihydrolipoamide Dehydrogenase Deficiency

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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

[Lists of food exchanges for use in phenylketonuria and maple-syrup urine disease].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Phenylketonuria (PKU) and maple syrup urine disease (MSUD) are disorders of the amino acid metabolism. Treatment of PKU and MSUD, is based on the restriction of the involved amino acids. Diet must begin very early in life in order to prevent neurological sequelae. A wrong dietary produce central

Maple syrup urine disease in Thai infants.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched-chain amino acids (leucine, isoleucine and valine). Classic MSUD usually manifests in the neonatal

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

BACKGROUND Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare cause of primary lactic acidosis in infancy. METHODS This article presents the results of biochemical and molecular analyses and metabolic response to treatment procedures in a 10-week old boy presenting with vomiting, progressive

Pancreatitis in patients with organic acidemias.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

OBJECTIVE The discovery of pancreatitis in two children with methylmalonic acidemia led us to review the experience with pancreatitis in a large number of patients with organic acidemias to determine whether pancreatitis is an important complication of these disorders. METHODS Case

[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

OBJECTIVE To investigate the values of tandem mass spectrometry (MS/MS) in etiologic diagnosis and understanding therapeutic effect in cerebral developmental retardation, and to help patients in early diagnosis, treatment and favorable prognosis. METHODS One hundred and fifty-eight childhood

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Acute onset of encephalopathy is often due to infections or intoxications, but a high index of suspicion should exist for metabolic or autoimmune causes particularly in recurrent cases. A 6-year-old previously healthy Caucasian male presented with confusion and somnolence. He had several days of

The risk of malnutrition in children with autism spectrum disorder.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. He had vomited intermittently in the two preceding months, without headaches, visual disturbance or early morning symptoms. He had autism spectrum disorder, and restricted eating since aged 2 years, eating

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