Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia

Habib, Anasufiza; Azize, Nor Azimah Abdul; Rahman, Salina Abdul; Yakob, Yusnita; Suberamaniam, Vengadeshwaran; Nazri, Muhammad Irfan Bukhari Ahmad; Sani, Huzaimah Abdullah; Ch’ng, Gaik-Siew; Leong, Huey Yin; Olpin, S. E.; Lock-Hock, Ngu

doi:10.1016/j.clinbiochem.2021.10.002

Cited by 6 publications

(3 citation statements)

References 29 publications

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“…Significant elevations of C16 and C18-acylcarnitine with decreased free carnitine in the TMS profile indicate CPT II/CACT deficiency. A (C16+C18)/C2 ratio of >0.3 helps discriminate false-positive results, increasing the diagnostic specificity of the screening, as noted in our case and others 19. For a definitive diagnosis, rapid molecular genetic testing is recommended 20.…”

Section: Discussionsupporting

confidence: 50%

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect

et al. 2022

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The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency is a rare lethal inherited disorder of fatty acid oxidation. Carnitine essentially transfers long-chain fatty acids across the mitochondrial membranes for β-oxidation, where CPT II plays a key role. CPT II deficiency phenotypical forms include lethal neonatal, severe infantile and myopathic forms. We present a term small-for-gestational-age neonate with hypoglycaemia, seizures, refractory cardiac arrhythmias and intracranial haemorrhage. Plasma acylcarnitine profile and the genetic study confirmed CPT II deficiency. Additionally, likely pathogenic variants in theSLC22A5gene point to primary carnitine deficiency. Antenatal findings of polycystic kidney disease and cardiomegaly were confirmed postnatally. All supportive measures, including extracorporeal life support, failed to improve the clinical course, and the baby succumbed. Major renal, cerebral and cardiac anomalies were reported with CPT II deficiency. In our case, fetal polycystic nephromegaly and cardiomegaly with parental consanguinity should have signalled the possibility of this disorder.

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Section: Discussionsupporting

confidence: 50%

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect

et al. 2022

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“…Significantly altered (C16 + C18:1)/C2 ratio was only observed in patients with gout. This ratio has been used to improve the diagnostic specificity for carnitine-acylcarnitine translocase (CACT) deficiency and carnitine palmitoyl transferase 2 (CPT2) deficiency, which were regarded as inherited disorders of mitochondrial long-chain fatty acid oxidation [ 46 ]. In this study, the increased (C16 + C18:1)/C2 ratio may be influenced by the disordered mitochondrial long-chain fatty acid oxidation in patients with gout.…”

Section: Discussionmentioning

confidence: 99%

Metabolomic analysis for asymptomatic hyperuricemia and gout based on a combination of dried blood spot sampling and mass spectrometry technology

Liu,

et al. 2023

J Orthop Surg Res

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Background Gout is the most common inflammatory arthritis and closely related to metabolic syndrome, leading to excruciating pain and the decline in quality of patients’ life. However, the pathogenesis of gout is still unclear, and novel biomarkers are demanded for the early prediction and diagnosis of gout. Objective This study aimed at profiling the dysregulated metabolic pathways in asymptomatic hyperuricemia (AHU) and gout and elucidating the associations between AHU, gout and metabolomics, which may aid in performing gout screening. Methods A total of 300 participants, including 114 healthy controls, 92 patients with AHU, and 94 patients with gout, were analyzed by using a combination of dried blood spot (DBS) sampling and mass spectrometry (MS) technology. Multiple algorithms were applied to characterize altered metabolic profiles in AHU and gout. The mainly altered metabolites were identified by random forest analysis. Results There were significant differences in AHU and gout compared with control group. The altered metabolites were involved in oxidation of fatty acids, carnitine synthesis, urea cycle, and amino acid metabolism in AHU and gout. Random forest classification of 16 metabolites yielded 3 important features to distinguish gout from AHU. Conclusions Distinct metabolomic signatures were observed in AHU and gout. The selected metabolites may have the potential to improve the early detection of gout.

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“…While most patients presented with decreased C0 (80%), concentrations of C2 and C3 were not shown. Most cases from two other studies ( 2 , 3 ) had low or borderline low levels of C2, inferring the significance of this short-chain acylcarnitine in diagnosing CACT deficiency. Similarly, positive number and corresponding false positive rates of C0 and C2 were supposed to be listed in Tab .…”

mentioning

confidence: 86%

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns

Tan,

Wang,

et al. 2023

Transl Pediatr

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Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia

Cited by 6 publications

References 29 publications

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect

Metabolomic analysis for asymptomatic hyperuricemia and gout based on a combination of dried blood spot sampling and mass spectrometry technology

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns

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