METACHROMATIC LEUKODISTROPHY (MLD)

Question 1

What is  METACHROMATIC LEUKODISTROPHY (MLD)?

Accepted Answer

rare (1:40000)
autosomal recessive
mutation in the arylsulfatase A gene
3 types:
-late infantile
- juvenile
- adult form
>40 different mutations

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MLD [Metachromatische Leukodystrophie]; Arylsulfatase A-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 250100

Question 4

Which enzymes are involved?

Accepted Answer

arylsulfatse A

Disease	METACHROMATIC LEUKODISTROPHY (MLD)
Synonym	METACHROMATIC LEUKODYSTROPHY, JUVENILE
OMIM	250100 OMIM = Online Mendelian Inheritance of Men
Orphanet	512
Protein (UniProt)	arylsulfatse A
Gene locus	22q13.33
ICD	E75.2
Summary	rare (1:40000) autosomal recessive mutation in the arylsulfatase A gene 3 types: -late infantile - juvenile - adult form >40 different mutations
Laboratory findings	15-Hydroxyeicosatetraenoic acid inc (urine) Arylsulfatase A dec (tissue) Protein inc (cerebrospinal fluid) Protein, total inc (cerebrospinal fluid) Sulfatide inc (urine)
Symptoms	ataxia behavior, abnormal or bizarre, confusion conjunctival biopsy, abnormal defect of walking, running, rising or climbing dysarthria dystonia EEG abnormalities [-] Fanconi syndrome gait disturbance gallbladder abnormalities hyperreflexia hyporeflexia hypotonia leukodystrophy mental retardation motor retardation MRI, brain, white matter abnormalities [-] muscle weakness Nerve conductive velocity, slow nystagmus onset, adulthood onset, childhood optic atrophy peripheral neuropathy progressive neurologic defect seizures spastic diplegia/quadriplegia/tetraplegia