ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (PEERB) [DD]

Question 1

What is  ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (PEERB) [DD]?

Accepted Answer

very rare

autosomal recessive

mutation in the TRAPPC2L gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618331

Question 3

Which enzymes are involved?

Accepted Answer

Trafficking protein particle complex subunit 2-like protein

Disease	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (PEERB) [DD]
OMIM	618331 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Trafficking protein particle complex subunit 2-like protein
Gene locus	16q24.3
ICD
Summary	very rare autosomal recessive mutation in the TRAPPC2L gene
Laboratory findings	Creatine kinase normal/inc (serum) no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	cerebral atrophy defect of walking, running, rising or climbing developmental regression encephalopathy microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, childhood onset, infancy rhabdomyolysis seizures spastic diplegia/quadriplegia/tetraplegia speech development, delayed, abnormal status epilepticus