GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Question 1

What is  GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE?

Accepted Answer

rare

autosomal recessive

mutation in the SLC6A9 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glycin-Enzephalopathie, atypische

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617301

Question 4

Which enzymes are involved?

Accepted Answer

Sodium- and chloride-dependent glycine transporter 1

Disease	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
OMIM	617301 OMIM = Online Mendelian Inheritance of Men
Orphanet	289863
Protein (UniProt)	Sodium- and chloride-dependent glycine transporter 1
Gene locus	1p34.1
ICD	E72.5
Summary	rare autosomal recessive mutation in the SLC6A9 gene
Laboratory findings	Glycine inc (cerebrospinal fluid) Glycine inc (urine)
Symptoms	apnea arthrogryposis clubfoot developmental delay dysmorphism encephalopathy failure to thrive hypertonia, spasticity hypotonia low set ears microcephaly (<2 SD for age) MRI, brain, white matter abnormalities [-] onset, childhood onset, fetus onset, infancy onset, neonatal respiratory insufficiency swallowing difficulties white matter changes, abnormalities