Details of Disease | DrugMAP

General Information of Disease (ID: DISAI38Z)

Disease Name	Metachromatic leukodystrophy, juvenile form
Synonyms	metachromatic leukodystrophy, juvenile; Mld; metachromatic leukodystrophy, late infantile; cerebral sclerosis diffuse metachromatic form; leukodystrophy metachromatic; cerebral sclerosis, diffuse, metachromatic form; metachromatic leukodystrophy; ARSA deficiency; pseudoarylsulfatase A deficiency; metachromatic leukoencephalopathy; MLD; arylsulfatase A deficiency; cerebroside sulfatase deficiency; metachromatic leukodystrophy, adult; sulfatide lipidosis; metachromatic leukodystrophy, juvenile form; MLD, juvenile form; arylsulfatase A deficiency, juvenile form
Definition	Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.
Disease Hierarchy	DIS3OMWS: Metachromatic leukodystrophy DISAI38Z: Metachromatic leukodystrophy, juvenile form
Disease Identifiers	MONDO ID MONDO_0009591 MESH ID D007966 UMLS CUI C0751276 MedGen ID 155528 Orphanet ID 309263 SNOMED CT ID 44359008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARSA	TTYQANR	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ARSA	DEJ6FSR	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSAP	OTUOEKY7	Strong	GermlineCausalMutation	[3]
ARSA	OT1CU8VR	Definitive	Autosomal recessive	[2]
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References

1	Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.Dev Med Child Neurol. 2006 May;48(5):383-7. doi: 10.1017/S001216220600082X.
2	An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy. Hum Genet. 1991 Jun;87(2):155-8. doi: 10.1007/BF00204172.
3	A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.Neurogenetics. 2014 May;15(2):101-6. doi: 10.1007/s10048-014-0390-4. Epub 2014 Jan 31.