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TMEM165 Deficiency: Postnatal Changes in Glycosylation.
S Schulte Althoff1, M Grüneberg1, J Reunert1
1Department of Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude A13, 48149, Münster, Germany.
JIMD Reports
|August 5, 2015
Summary
This study details a patient with TMEM165-CDG, a rare genetic disorder. Researchers observed progressive changes in the patient's glycosylation patterns from birth, offering new insights into this multisystemic condition.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Congenital disorders of glycosylation (CDG) are inherited metabolic diseases with multisystemic effects.
- Mutations in single genes can lead to widespread protein glycosylation defects.
- TMEM165-CDG is a rare form of CDG with significant clinical manifestations.
Purpose of the Study:
- To describe a patient diagnosed with TMEM165-CDG.
- To document the postnatal glycosylation changes in a patient with TMEM165-CDG.
- To provide insights into the adaptational process of glycosylation in the early postnatal period.
Main Methods:
- Prenatal diagnostics for TMEM165-CDG.
- Observation of glycosylation patterns from birth.
- Analysis of hypoglycosylation, reduced sialylation, and hypogalactosylation in postnatal weeks.
Main Results:
- The patient presented with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement.
- Pathological glycosylation patterns were evident from the first day of life.
- Progressive changes in glycosylation, including reduced sialylation and hypogalactosylation, were observed over the first few postnatal weeks.
Conclusions:
- This is the first report detailing postnatal glycosylation changes in TMEM165-CDG.
- The findings highlight the dynamic nature of glycosylation in the early postnatal period for this condition.
- Understanding these changes is crucial for managing TMEM165-CDG and similar multisystemic disorders.
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