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All Journal Jurnal Gizi dan Pangan Paediatrica Indonesiana
Leong, Huey Yin
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Health Professions Medicine & Pharmacology

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A novel PNP variant causes lymphopenia, hypouricemia and neurological deficit Abd Hamid, Intan Juliana; Chen, Bee Chin; Leong, Huey Yin; Yakob, Yusnita; Abd Azize, Nor Azimah; Mohd Khalid, Mohd Khairul Nizam; Ch'ng, Gaik Siew; Keng, Wee Teik; Ngu, Lock Hock
Paediatrica Indonesiana Vol. 65 No. 2 (2025): March 2025
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi65.2.2025.171-8

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive disorder of the purine metabolism and salvage pathway caused by mutations in the PNP gene. This disorder leads to progressive severe combined immunodeficiency (SCID) and neurological impairment. We report on identification of a 5-year-old Malaysian-Thai girl who presented with T–B–NK–SCID phenotypes and a novel PNP gene mutation. A full analysis of the clinical phenotypes, immunological investigations, and molecular study was performed. She initially presented with spastic diplegia and isolated motor developmental delay. Her blood tests showed lymphopenia and profound hypouricemia, which prompted further investigations for purine deficiency. Urine purine nucleosides, including inosine, guanosine and deoxylated forms, were grossly elevated. The diagnosis was further confirmed by detection of low PNP enzyme activity in hemolysate. Analysis of the PNP gene revealed a novel homozygous mutation c.550C>T, p.(Gln184Ter). Our report highlights the importance of evaluating for SCID in patients presenting with lymphopenia, hypouricemia, and neurological manifestations.
Dietary Adherence in Children with Amino Acid Metabolism Disorders and its Impact on Caregivers’ Quality of Life Yong, Chien Yin; Rajikan, Roslee; Lim, Jing Ying; Yahya, Hanis Mastura; Ghazali, Shazli Ezzat; Leong, Huey Yin; Mohamad, Maslina; Md. Rani, Rufaidah; Mohd Fahmi Teng, Nur Islami
Jurnal Gizi dan Pangan Vol. 19 No. 1 (2024)
Publisher : The Food and Nutrition Society of Indonesia in collaboration with the Department of Community Nutrition, IPB University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.25182/jgp.2024.19.1.41-50

Abstract

This study explored the relationship among socio-demographic factors, patients’ dietary adherence, and the Quality of Life (QoL) experienced by their caregivers. A cross-sectional study was carried out, involving 66 caregivers of pediatric patients in Malaysia diagnosed Amino Acid Metabolism Disorders (AAMDs). Dietary adherence was assessed using a modified version of the Malaysia Medication Adherence Assessment Tool (MyMAAT-12), and the caregiver’s QoL was evaluated using the 36-Item Short Form Survey (SF 36) questionnaire. Majority of the patients were Malay (75.76%), and female (59.1%). Statistical analysis found that caregivers with a higher education level were associated with a higher dietary adherence (rs (64)=0.382, p=0.002) and better mental health (rs (64)=0.281, p=0.022). The age of patients had negative significant correlation with the physical function and general health (rs (64)=0.287, p=0.019) of their caregivers. Besides that, dietary adherence was negatively correlated with social functioning (p=0.010), role limited due to physical health (p=0.018), role limited due to emotional problems (p=0.022), vitality (p=0.021), mental health (p=0.014) and pain (p=0.011). Conclusion: Dietary adherence had a significant impact on the QoL for caregivers of patients with amino acid metabolism disorders. Therefore, it is crucial to explore appropriate treatment strategies and provide support to enhance patients' adherence to their dietary requirements, simultaneously improving the caregivers' QoL.
Co-Authors Abd Azize, Nor Azimah Abd Hamid, Intan Juliana Ch'ng, Gaik Siew Chen, Bee Chin Ghazali, Shazli Ezzat Keng, Wee Teik Lim, Jing Ying Md. Rani, Rufaidah Mohamad, Maslina Mohd Fahmi Teng, Nur Islami Mohd Khalid, Mohd Khairul Nizam Ngu, Lock Hock Rajikan, Roslee Yahya, Hanis Mastura Yakob, Yusnita Yong, Chien Yin