Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD. La leucodistrofia metacromática es una enfermedad progresiva hereditaria y neurodegenerativa. Un paciente que sufre de esta enfermedad representa. Request PDF on ResearchGate | Leucodistrofia metacromática. Presentación de caso | Resumen La leucodistofia metacromática (LDM) es una enfermedad.

Author: Vukasa Kezilkree
Country: Fiji
Language: English (Spanish)
Genre: History
Published (Last): 8 June 2009
Pages: 122
PDF File Size: 16.9 Mb
ePub File Size: 2.33 Mb
ISBN: 213-7-78219-841-2
Downloads: 25902
Price: Free* [*Free Regsitration Required]
Uploader: Gardazahn

Dev Med Child Neurol. In these clinical types, HSCT can result in disease stabilization and high disease-burden-free survival.

Metachromatic leukodystrophy

MedGen Related information in MedGen. All types of MLD excrete abnormally high sulfatides in urine.

Although some mucopolysaccharidoses can have a similar presentation to arylsulfatase A deficiency, the characteristic physical features seen in most mucopolysaccharidoses i. In the gallbladder, hyperplastic polyps are common and hemobilia as well as gallbladder carcinoma have been reported as complications [ Garavelli et alvan Rappard et al b ].

The neuropsychiatry of inborn errors of metabolism. Development and reliability of a classification system for gross motor leucidistrofia in children with metachromatic leucodystrophy. Surveillance Individuals with MLD should be followed at regular intervals by a neurologist and a metabolic geneticist. Gene therapy has been shown to be more effective than traditional healthy donor leucodistroofia to correct the disease. On CT, hyperdensities are observed in elucodistrofia matter, particularly in the frontal and parietal regions.

There was a problem providing the content you requested

As it progresses, cortical and subcortical atrophy is observed, with ventricular dilatation. PMC ] [ PubMed: Methods that may be used include: Please cite this article as: MRI spectroscopy usually shows a decrease in N-acetylaspartate and myo-inositol and, occasionally, an increase in lactate.

Attempts at improving the effectiveness of HSCT include genetic modification of autologous hematopoietic stem and progenitor cells using gene therapycombination with intrathecal enzyme replacement, or intrathecal cell transplantation. Isotretinoin therapy for acne vulgaris and first episode MLD is inherited in an autosomal recessive manner. For an introduction to comprehensive genomic testing click here.


Inadequate symptom control and deteriorating condition led to the need for permanent institutional care. A useful treatment for late metachromatic leukodystrophy. This registry never became operational.

Brain,pp. The documents contained in this web site are presented for information purposes lejcodistrofia.

Without it, the nerves in the brain central nervous system — CNS and the peripheral nerves peripheral nervous system — PNS which control, among other things the muscles related to mobility, cease to function properly. Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype-phenotype correlation. In others, neurologic symptoms weakness and loss of coordination progressing to spasticity and incontinence predominate initially, leading to diagnosis of multiple sclerosis or other neurodegenerative diseases.

Multiple metachromatic leucodystrophy alleles in an unaffected subject: Such testing is usually not necessary for leucodietrofia the diagnosis but can be useful when the leucoodistrofia is ambiguous pseudodeficiency vs late-onset MLD or is being made presymptomatically. Isolated cranial nerve enhancement in metachromatic leukodystrophy.

Disease duration can vary from 3 to 17 years. J Neuropsychiatry Clin Neurosci, metafromaticapp.

Anaesthetic Implications in a Case of Metabolic Leukodystrophy

Paranoid schizophrenia was diagnosed. Gly99Asp 40 – – – Eto et al [] 10 – – – The tests that can be used for the diagnosis of MLD include the following No locomotion nor sitting without support, but head control is possible.

These signs are manifested in symptoms affecting mood, motivation, judgement and planning and changes in behaviour, 1 suggestive of the recently revived concept of diaschisis, coined by Monakowin which neurophysiological disorders distant from the focal brain lesion are observed. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Symptoms start insidiously with a decline in school performance, abnormal behaviors, or psychiatric symptoms.


Therapies Under Investigation Attempts at improving the effectiveness of HSCT include genetic modification of autologous hematopoietic stem and progenitor cells using gene therapycombination with intrathecal enzyme replacement, or intrathecal cell transplantation. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use.

Leufodistrofia percent of individuals show first motor symptoms before age 18 months [ Kehrer et al a metafromatica. Biochemical and genetic analysis of seven Korean individuals with suspected metachromatic leukodystrophy. Psychiatrists should be aware of their role in early diagnosis of MLD, since initial symptoms may lead to psychiatric consultation. Carrier testing of at-risk family members and prenatal testing for metacromaticq pregnancy at increased risk are possible if both ARSA pathogenic variants have been identified in an affected family member.

Note on variant classification: The term has been applied to other enzyme deficiency disorders, such as hexosaminidase A deficiencywhere specific variants are associated with reduced enzymatic activity when measured using synthetic substrate but have normal enzymatic activity when measured using a natural substrate.

Metachromatic Leukodystrophy Information Page.

Delayed development in late infancy, coupled with loss of acquired abilities, should prompt MRI evaluation. Lipids in Health and Disease. For questions regarding permissions or whether a specified use is allowed, contact: Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis. Despite mounting evidence of utility, HSCT is not expected to fully abrogate the manifestations of the disease. MLD is considered a rare disease in the ,etacromatica and other countries.