Dermatitis in treated maple syrup urine disease

Erythroderma/generalized exfoliative dermatitis in pediatric practice: An overview

“…Maple syrup urine disease is an interesting example. Its treatment includes restriction of essential amino‐acids; otherwise the severity of dermatitis worsens with increased control on amino‐acid intake 40–42 …”

Acrodermatitis Dysmetabolica in a Child with Cystic Fibrosis

“…A recent case series of 12 patients diagnosed with AD had mixed amino acid deficiencies, notably isoleucine deficiency, with the majority having normal zinc levels (3,5). Our patient was hypoalbuminemic and deficient in several amino acids (not including isoleucine), which was the likely cause of his AD (3).…”

Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with Maple Syrup Urine Disease

“…Our patient developed subnormal plasma-levels of isoleucine and simultaneously eczematous desquamation of the skin on hands, feet and gluteal regions as well as diarrhoea. Dermatitis and gastro-intestinal symptoms have been described in other patients during treatment of MSUD resulting in low plasma levels of isoleucine, leucine, or both (Spraker et al 1986;Giacoia & Berry 1993;Koch et al 1993Koch et al ,1994. Similar symptoms have also been described in patients with arginine deficiency (Goldblum et al 1986) which suggests that this is not an isolated response to any one specific amino acid but rather to several different amino acid deficiency states.…”

“…It is characterized by a defect in the branched-chain amino acid decarboxylase with an inability to metabolize the branched amino acids valine, leucine and isoleucine leading to increased levels of these amino acids and their corresponding a-keto acids. Five clinical forms have been described: classic, intermittent, intermediate, thiamineresponsive, and one type associated with pyruvate dehydrogenase complex deficiency (Koch et al 1993). This subclassification is dependent on the re-sidual functional status of the enzyme complex.…”