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.

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The late-infantile subtype, described by Greenfield 14 inis the most prevalent. Arylsulfatase A Deficiency Synonyms: November Learn how and when to remove this template message. Death most commonly results from pneumonia or other infection. Loss of any locomotion as well as loss of any head and trunk control.

GeneReviews is not responsible for the information provided by other organizations. Communicates in complete sentences at a quality and performance normal for age. Eventually, bowel and bladder control is lost. Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy.

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Supportive therapies to maximize the retention of physical and neuromuscular functions help avoid many end-stage care problems. Arylsulfatase A deficiency MLD is inherited in an autosomal recessive manner. Brain herniation Reye’s Hepatic encephalopathy Toxic encephalopathy Hashimoto’s encephalopathy. Ex vivo gene therapy.

Metachromatic leukodystrophy

Cerebral angiogram was normal, while the metabolic profile and leptospira, cytomegalovirus and Epstein—Barr virus antibodies were all negative. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy.


Tsuda et al []Kurosawa et al []Niida et al [] Taiwan. This section is lsucodistrofia meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional.

Hence, most children with severe forms of MLD would not be diagnosed at the presymptomatic phase of the disease, making it unlikely for this therapeutic option to be offered or effective for many individuals with MLD. The abnormal white matter is often described as having a tigroid pattern or radial stripes. In the second stage, the motor impairment becomes more severe and is accompanied by mental impairment.

Complete loss of expressive language. Ann Clin Translat Neurol,pp. She had several admissions to a mental health unit and had to be institutionalised in a long-term care home as a result of psychotic symptoms and severe episodes of metacroomatica towards others. In these clinical types, HSCT can result in disease stabilization and high disease-burden-free survival. There is evidence of significant loss of grey matter volume from early stages of MLD.

Such testing may provide or suggest a diagnosis not previously considered e. Initial parieto-occipital preponderance is observed in most individuals with late-infantile MLD, with subcortical U-fibers and cerebellar white matter spared. This item has received. Continuing navigation will be considered as acceptance of this use.

Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype-phenotype correlation. Delayed development in late infancy, coupled with loss of acquired abilities, should prompt MRI evaluation. The myelin sheath is a fatty covering that protects nerve fibers.



Communicates in complete sentences with reduced quality and performance for age. J Neuropsychiatry Clin Neurosci, 15pp.

At acid pH such as that occurring in the lysosome, the enzyme aggregates further to an octamer, the form present in the crystalline enzyme [ Vagedes et al ]. Homozygosity for the c. Although the presenting symptoms and age of onset metcaromatica, all individuals eventually develop complete loss of motor, sensory, and intellectual functions. Carriers have low enzyme levels compared leucodistrofiaa their family population “normal” levels vary from family to family but even low enzyme levels are adequate to process the body’s sulfatide.

Anaesthetic Implications in a Case of Metabolic Leukodystrophy

The children by the age of five were all in good condition and going to kindergarten when normally by this age, children with the disease can not even speak. The phenotype in I-cell disease is severe in infancy and is not likely to be confused with arylsulfatase A deficiency. Methods that may be used include: Initial manifestations include decline in school performance and emergence of behavioral problems, followed by gait disturbances.

De Queiroz Ribeiro, M.