Abstract
MALT lymphoma, also referred to as extra nodal marginal zone B-cell lymphoma, is a low-grade malignant non-Hodgkin lymphoma...
Highlights
Expanded newborn screening has radically changed natural history and therapeutic management of many pediatric metabolic diseases
We propose the use of Phe/Tyr ratio, more than classic evaluation of Phe value only, as prognostic metabolic biomarker of good or poor metabolic control or rather the ability to convert phenylalanine into tyrosine, reducing accumulation during patient followup
Phenylalanine is the primary marker for assessing correct adherence dietary and pharmacological treatments, these preliminary data suggest that Phe/Tyr ratio could give a more real idea of diet adherence and pharmacological treatments in every patient
Summary
Expanded newborn screening has radically changed natural history and therapeutic management of many pediatric metabolic diseases. Diagnosis permits to start very precociously diet or pharmacological therapies This new approach allows to taper the development of the clinical phenotype of these diseases, avoiding, or in any case limiting, the accumulation of toxic metabolites. Phenylketonuria (PKU) is a mendelian-inherited autosomal recessive inborn error of phenylalanine metabolism (prevalence of PKU 1:10,000) caused by deficiency or absence of the enzyme phenylalanine hydroxylase (PAH), that converts phenylalanine to tyrosine. In alternative it can be caused by defects involving the cofactor tetrahydrobiopterin (BH4), with a key role in this enzymatic step [5]. If left untreated or late diagnosed, PKU results in increased phenylalanine concentrations in blood and brain ( blood-brain-barrier), which cause severe irreversible intellectual disability, microcephaly, motor deficits, eczematous rash, autism, seizures, developmental problems, aberrant behavior and psychiatric symptoms
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