Startseite A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
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A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency

  • Sevil Dorum EMAIL logo , Ipek Güney Varal , Orhan Gorukmez , Pelin Dogan und Arzu Ekici
Veröffentlicht/Copyright: 13. Juni 2019
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 32 Heft 7

Abstract

Background

The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form.

Case presentation

The patient was hypotonic and bradycardic at admission. Blood urea nitrogen and creatinine were high. He had polycystic kidneys, patent foramen ovale and aortic valve insufficiency. Cranial magnetic resonance imaging (MRI) revealed increased signal intensities in the periventricular white matter. Tandem mass spectrometry (MS) analysis was compatible with CPT2D. We found a homozygous in-frame deletion in the CPT2 gene using next-generation sequencing.

Conclusions

We identified a novel mutation leading to the lethal form of CPT2D with polycystic kidney, cardiac malformation and cranial MRI findings. Our findings expand the spectrum of causative mutations and clinical findings in CPT2D.

Keywords: carnitine palmitoyltransferase 2 deficiency; cranial MRI; mutation
Corresponding author: Sevil Dorum, MD, Division of Metabolism, Department of Pediatrics, University of Health Sciences Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey, Phone: +90 505 2583766

Acknowledgments

We thank the parents of the patient for their cooperation.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

References

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Received: 2019-01-18
Accepted: 2019-04-07
Published Online: 2019-06-13
Published in Print: 2019-07-26

© 2019 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpem-2019-0038
Schlagwörter für diesen Artikel
carnitine palmitoyltransferase 2 deficiency; cranial MRI; mutation

Artikel in diesem Heft

  1. Frontmatter
  2. Review
  3. Effect of safflower yellow on early type II diabetic nephropathy: a systematic review and meta-analysis of randomized controlled trials
  4. Original Articles
  5. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
  6. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
  7. Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
  8. Auditory event-related potentials demonstrate early cognitive impairment in children with subclinical hypothyroidism
  9. Cardiovascular risk factors in children with type 1 diabetes mellitus
  10. The relationship between serum FGF-23 concentration and insulin resistance, prediabetes and dyslipidemia in obese children and adolescents
  11. The metabolic consequences of overweight in a cohort of children with type 1 diabetes
  12. The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience
  13. Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics
  14. Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients
  15. Determinants for low bone mineral density in pre-school children: a matched case-control study in Wuhan, China
  16. Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents
  17. Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
  18. Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series
  19. Case Reports
  20. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
  21. A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
  22. Diagnosis of cyclic Cushing’s disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes
  23. Short Communication
  24. Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
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