Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria

1990 ◽  
Vol 13 (2) ◽  
pp. 125-136 ◽  
Author(s):  
H. G. Parsons ◽  
R. J. Carter ◽  
M. Unrath ◽  
F. F. Snyder
Keyword(s):  
Amino Acid ◽  
Maple Syrup Urine Disease ◽  
Methylmalonic Aciduria ◽  
Maple Syrup ◽  
Acid Intake ◽  
Branched Chain Amino Acid ◽  
Urine Disease ◽  
Amino Acid Intake ◽  
Branched Chain

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.

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