LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO

Question 1

What is  LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO?

Accepted Answer

very rare

autosomal recessive

mutation in the ACER3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617762

Question 3

Which enzymes are involved?

Accepted Answer

Alkaline ceramidase 3

Disease	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO
Synonym	ALKALINE CERAMIDASE 3 DEFICIENCY
OMIM	617762 OMIM = Online Mendelian Inheritance of Men
Orphanet	502444
Protein (UniProt)	Alkaline ceramidase 3
Gene locus	11q13.5
ICD
Summary	very rare autosomal recessive mutation in the ACER3 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	areflexia cerebral atrophy contractures, joints developmental regression dysmorphism dystonia hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder leukodystrophy macrocephaly (large calvaria, >2 SD for age) onset, childhood onset, infancy peripheral neuropathy short stature