Publications by authors named "Chuangwen Liu"
Article Synopsis
- - Enterokinase deficiency (EKD) is a rare inherited disorder caused by mutations in the TMPRSS15 gene, with only 12 known cases reported so far.
- - A new case involved a female infant with a specific mutation (c.1216C>T, p.R406*) exhibiting skin lesions similar to acrodermatitis enteropathica (AE).
- - After starting a protein-rich hydrolyzed formula, the infant's skin condition improved significantly in just 11 days, indicating that AE-like rashes can be linked to EKD and broadening the understanding of TMPRSS15 mutations.
Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder caused by decreased activity of methylmalonyl-CoA mutase or metabolic disturbance of its coenzyme cobalamin, cutaneous manifestations are rare clinical signs in this disease. Herein, we describe a Chinese boy with MMA fed with a formula lacking branched-chain amino acids presenting with erythroderma and acrodermatitis enteropathica-like rash, a homozygous nonsense mutation c.742C>T (p.
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