Maple syrup urine disease: Branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts

1976 ◽  
Vol 14 (7-8) ◽  
pp. 527-539 ◽  
Author(s):  
Stephen D. Skaper ◽  
Daniel P. Molden ◽  
J. Edwin Seegmiller
Keyword(s):  
Amino Acid ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Branched Chain Amino Acid ◽  
Urine Disease ◽  
Branched Chain ◽  
Amino Acid Concentrations

scholarly journals Skin Lesions Associated with Dietary Management of Maple Syrup Urine Disease: a Case Report

2015 ◽  
Vol 7 (4) ◽  
pp. 153-162 ◽  
Author(s):  
Jana Kazandjieva ◽  
Dimitrina Guleva ◽  
Assia Nikolova ◽  
Sonya Márina
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Maple Syrup Urine Disease ◽  
Skin Lesions ◽  
Branched Chain Amino Acids ◽  
Acrodermatitis Enteropathica ◽  
Metabolic Decompensation ◽  
Maple Syrup ◽  
Urine Disease ◽  
Branched Chain

Abstract Leucinosis (maple syrup urine disease - MSUD) is an inherited aminoacidopathy and organic aciduria caused by severe enzyme defect in the metabolic pathway of amino acids: leucine, isoleucine, and valine. The classical variant of the disease is characterized by accumulation of both amino and α-keto acids, particulary the most toxic rapid elevation of circulating leucine and its ketoacid, α-ketoisocaproate, which cause encephalopathy and life-threatening brain swelling. However, patients with the most severe form, classical maple syrup urine disease, may appear normal at birth, but develop acute metabolic decompensation within the first weeks of life with typical symptoms: poor feeding, vomiting, poor weight gain, somnolence and burnt sugar-smelling urine, reminiscent of maple syrup. Early diagnosis and dietary intervention improve the patient’s condition, prevent severe complications, and may allow normal intellectual development. We present a 4-month old infant with leucinosis dignosed 3 months earlier, due to elevated levels of amino acids: leucine, isoleucine and valine. The patient was full-term neonate with an uncomplecated delivery, without any family history of metabolic disorder or consanguinity. The infant was referred to a dermatologist, because of maculopapular exanthema on the scalp, trunk, upper and lower extremities, and exfoliative dermatitis of the perioral, particularly anogenital regions, associated with diarrhea. Skin involvement was associated with poor general condition of the infant exhibiting severe hypotension, anemic syndrome, dyspepsia and neurological symptoms. Exanthema developed a few days after the initiation of nutritional therapy for MSUD: isoleucine-, leucine-, and valine-free powdered medical food (MSUD-2) supplemented with iron. Zink levels were within normal ranges. Rapid skin improvement occurred after adequate branched-chain amino acids supplementation was commenced under regular laboratory control (normal zinc serum level with deficiencies of leucine and valine), skin hygiene with antiseptics, emollients and low potent topical corticosteroids. Treatment of acute metabolic decompensation and dietary restriction of branched-chain amino acids are the main aspects in the management of maple syrup urine disease. Common findings in patients with MSUD include: plasma amino acid imbalance, particularly of essential amino acids, failure to thrive attributed to restriction of particular precursor amino acids and natural proteins, micronutrient deficiencies or higher energy requirement due to chronic illness or inflammation. Due to low intake of branched-chain amino acids, some patients develop skin lesions known as acrodermatitis enteropathica-like syndrome. Here we report a case of an infant who developed acrodermatitis enteropathica-like skin eruptions due to branched-chain amino acid deficiency during treatment of maple syrup urine disease. According to available world literature, this is the first report of acrodermatitis enteropathica-like syndrome in an infant with maple syrup urine disease (leucinosis) in the Republic of Bulgaria.

Aminoacidopathies, urea cycle disorders, and organic acidurias

2018 ◽  
Author(s):  
Robin Lachmann ◽  
Elaine Murphy
Keyword(s):  
Amino Acid ◽  
Phenylalanine Hydroxylase ◽  
Acid Decarboxylase ◽  
Organic Acidurias ◽  
Maple Syrup ◽  
Amino Acid Decarboxylase ◽  
Branched Chain Amino Acid ◽  
Urine Disease ◽  
Branched Chain ◽  
Cycle Disorders

Aminoacidopathies are caused by deficiencies in enzymes involved in amino acid metabolism and are often characterized by the accumulation of a toxic amino acid. The two diseases most likely to be encountered in adult medicine are phenylketonuria, which is caused by a deficiency of phenylalanine hydroxylase, and maple syrup urine disease (MSUD), which is due to a branched-chain amino acid decarboxylase deficiency. High levels of phenylalanine progressively damage the developing brain, leading to severe learning difficulties. The high levels of leucine which accumulate in MSUD produce an acute encephalopathy which, if not treated, can rapidly become fatal.

Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with l-[1-13C]phenylalanine

2004 ◽  
Vol 287 (1) ◽  
pp. E142-E149 ◽  
Author(s):  
Roya Riazi ◽  
Mahroukh Rafii ◽  
Joe T. R. Clarke ◽  
Linda J. Wykes ◽  
Ronald O. Ball ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Maple Syrup Urine Disease ◽  
Branched Chain Amino Acids ◽  
Acid Oxidation ◽  
Maple Syrup ◽  
Amino Acid Oxidation ◽  
Urine Disease ◽  
The Mean ◽  
Branched Chain

Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defects in the mitochondrial multienzyme complex branched-chain α-keto acid dehydrogenase (BCKD; EC 1.2.4.4 ), responsible for the oxidative decarboxylation of the branched-chain ketoacids (BCKA) derived from the branched-chain amino acids (BCAA) leucine, valine, and isoleucine. Deficiency of the enzyme results in increased concentrations of the BCAA and BCKA in body cells and fluids. The treatment of the disease is aimed at keeping the concentration of BCAA below the toxic concentrations, primarily by dietary restriction of BCAA intake. The objective of this study was to determine the total BCAA requirements of patients with classical MSUD caused by marked deficiency of BCKD by use of the indicator amino acid oxidation (IAAO) technique. Five MSUD patients from the MSUD clinic of The Hospital for Sick Children participated in the study. Each was randomly assigned to different intakes of BCAA mixture (0, 20, 30, 50, 60, 70, 90, 110, and 130 mg·kg−1·day−1), in which the relative proportion of BCAA was the same as that in egg protein. Total BCAA requirement was determined by measuring the oxidation of l-[1-13C]phenylalanine to 13CO2. The mean total BCAA requirement was estimated using a two-phase linear regression crossover analysis, which showed that the mean total BCAA requirement was 45 mg·kg−1·day−1, with the safe level of intake (upper 95% confidence interval) at 62 mg·kg−1·day−1. This is the first time BCAA requirements in patients with MSUD have been determined directly.

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