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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.

|August 5, 2015

Summary

This summary is machine-generated.

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.

Keywords:

CDG Congenital disorders of glycosylation Glycosylation Postnatal TMEM165

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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.