Publications by authors named "M Patalan"
Article Synopsis
- In a study on phenylketonuria (PKU), data from 1323 patients across nine European and Turkish centers revealed that natural protein intake rises with age, especially during childhood and adolescence, while lifelong phenylalanine tolerance remains unclear.
- The research collected dietary intake information from 2012 to 2018, showing varying tolerances among different PKU classifications, with patients having mild PKU tolerating about 50% more phenylalanine than those with classical PKU.
- Additionally, the study highlighted that natural protein intake significantly increased for patients using sapropterin, with notable geographical differences in protein tolerance observed between Southern and Northern Europe.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the gene. Clinically, it presents with respiratory failure due to diaphragmatic paralysis, progressive muscle weakness starting in the distal parts of the limbs, dysphagia, and damage to sensory and autonomic nerves.
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- A 2011 survey indicated that blood phenylalanine (Phe) control in patients with phenylketonuria (PKU) worsens with age, leading to new European PKU guidelines for blood Phe levels in 2017.
- The study involved nine centers across Europe and Turkey, collecting data from 1323 patients with varying PKU severity to evaluate blood Phe control from 2012 to 2018.
- Results showed that younger patients had better blood Phe control, with classical PKU patients having significantly higher mean blood Phe levels compared to mild PKU and hyperphenylalaninemia (HPA) patients, while female patients generally had a higher percentage of
Article Synopsis
- About 90% of children with classic Beckwith-Wiedemann Syndrome (BWS) have macroglossia, and 40% undergo surgical tongue reduction.
- A case study presented treatment for a 5-month-old child with BWS using a unique therapy that stimulated oral areas controlled by the trigeminal nerve.
- After 3 months of therapy, including weekly sessions and daily home stimulation, significant improvements in the child's oral alignment and function were observed, suggesting this approach may be a viable alternative to surgery.
Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).
Int J Environ Res Public Health
February 2022
The authors present a case report of a boy with a classical form of phenylketonuria and Alazami syndrome. The inborn error of phenylalanine metabolism was diagnosed in the neonatal period based on population new-born screening. Despite early implementation of a low-phenylalanine diet and good biochemical control, the patient developed behavioural disorders and intellectual disability.
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