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Pseudo-Zellweger Syndrome

Thiolase Deficiency


Presentation

  • However, peroxisomes were abundantly present in hepatocytes and cultured fibroblasts, and all peroxisomal beta-oxidation enzyme proteins were detected on immunoblot analysis.[ncbi.nlm.nih.gov]
  • (s): Thiolase deficiency Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: - UMLS: C1533628 MeSH: C535818 GARD: - MedDRA: - Summary This disease has been moved to Bifunctional enzyme deficiency The documents contained in this web site are presented[orpha.net]
  • The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire.[books.google.com]
  • Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision.[nectarmutation.org]
  • Historical note and terminology Peroxisomes are cell organelles present in nearly all eukaryotic cells ( Hruban et al 1972 ; Novikoff et al 1973 ).[medlink.com]
Congestive Heart Failure
  • heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual[se-atlas.de]
High Arched Palate
  • Symptoms - Pseudo-Zellweger syndrome * Abnormal voice * Rib abnormality * Heart septal defect * Expressionless face * Reduced muscle tone * Mental retardation * Seizures * Facial paralysis * High arched palate * Reduced reflexes Causes - Pseudo-Zellweger[checkorphan.org]
  • Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present. Skeletal abnormalities (chondrodysplasia punctata, most often in the patella and hips) and subcortical renal cysts are frequent.[orpha.net]
  • Virtually all patients present within the first month of life with hypotonia and seizures with over two-thirds also demonstrating Zellweger-like facial features (i.e. high forehead, high arched palate, enlarged fontanelle, long philtrum, hypertelorism[ncbi.nlm.nih.gov]
Macula
  • Widespread peripheral retinal atrophy was seen with relative sparing of the central macula. Clinically this corresponds to involvement of peripheral rods and relative sparing of cones.[ncbi.nlm.nih.gov]
Foot Deformity
  • He was found to have bilateral pes cavus and mild hammertoe foot deformity, diffuse areflexia and flexor plantar responses. Very mild weakness of anterior compartment muscles was noted prompting prescription of ankle-foot orthoses.[ncbi.nlm.nih.gov]
Language Delays
  • Patient 1 A 16½-year-old boy was identified with expressive language delay and articulation difficulty at 3½ years old, resulting from a moderate-to-severe sensorineural hearing impairment.[ncbi.nlm.nih.gov]
Gait Ataxia
  • At 11 years old, he developed insidious, progressive gait ataxia. He was found to have bilateral pes cavus and mild hammertoe foot deformity, diffuse areflexia and flexor plantar responses.[ncbi.nlm.nih.gov]
Hyperesthesia
  • Sensory testing was normal except for pin-prick hyperesthesia to his toes. Mild ankle tightness was noted. Coordination was normal. Nerve conduction studies (Table 1 ) revealed a mild sensorimotor polyneuropathy with demyelinating features.[ncbi.nlm.nih.gov]

Workup

  • Routine workup of another child with bile acid abnormalities for the possibility of peroxisomal involvement revealed a lack of ABCD3, an abundant peroxisome membrane protein that facilitates entry of branched-chain fatty acids and bile acid precursors[medlink.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Pseudo-Zellweger syndrome Not supplied. Resources - Pseudo-Zellweger syndrome Pseudo-Zellweger syndrome: Another name for Thiolase deficiency[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • […] and prognosis There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life.[radiopaedia.org]

Prognosis

  • Prognosis - Pseudo-Zellweger syndrome Not supplied. Treatment - Pseudo-Zellweger syndrome Not supplied. Resources - Pseudo-Zellweger syndrome Pseudo-Zellweger syndrome: Another name for Thiolase deficiency[checkorphan.org]
  • There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life.[radiopaedia.org]
  • Prognosis Regardless of interventions, prognosis is poor with most infants dying within the first year of life secondary to respiratory compromise related to infection or intractable epilepsy.[orpha.net]
  • Prognosis [ edit ] Currently, no cure for Zellweger syndrome is known, nor is a course of treatment made standard. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress.[en.wikipedia.org]
  • Clinical course Prognosis in the late-onset form is much better.[mrineonatalbrain.com]

Etiology

  • Etiology PBD-ZSS is caused by mutations in one of 13 PEX genes encoding peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis.[orpha.net]
  • Presentation in the Neonatal Period: “Neonatal Metabolic Distress” Identification of children at risk Initial approach Clinical approach to etiology in metabolic diseases ( Tables 66-2, 66-3 ) Type I: neurologic deterioration, intoxication type, with[ommbid.mhmedical.com]
  • The etiology and pathogenesis of PMG are diverse. Some forms of PMG are acquired and are caused by prenatal hypoxic-ischemic insults . In such cases, layer five is damaged and layers superficial to it overfold and fuse.[neuropathology-web.org]

Epidemiology

  • Summary Epidemiology The birth prevalence of PBD-ZSS is estimated to be around 1/50,000 in North America, and around 1/500,000 in Japan. The highest incidence of ZS was reported in the Saguenay-Lac St Jean region of Quebec (around 1/12,000).[orpha.net]
  • Epidemiology Frequency United States The combined incidence of peroxisomal disorders is in excess of 1 in 20,000 individuals. Patients hemizygous or heterozygous for adrenoleukodystrophy (ALD) that is X-linked (X-ALD) are by far the largest subset.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113. Review. Crane DI, Maxwell MA, Paton BC.[ghr.nlm.nih.gov]
  • The second category can be subdivided on the basis of pathophysiology into three groups that are useful for diagnosis. Group 1.[ommbid.mhmedical.com]
  • Pathophysiology Peroxisomes are ubiquitous components of the cytoplasm found in nearly all mammalian cells.[emedicine.medscape.com]
  • The underlying pathophysiological mechanism in urea cycle defects (vasogenic edema) is different from that in MSUD (vacuolating myelinopathy), as demonstrated by the distinctly different presentations on diffusion-weighted images.[mrineonatalbrain.com]

Prevention

  • Prevention - Pseudo-Zellweger syndrome Not supplied. Diagnosis - Pseudo-Zellweger syndrome signs and symptoms of Thiolase deficiency may vary on an individual basis for each patient.[checkorphan.org]
  • Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.[books.google.com]
  • Impairment of one or both of the protein's enzymatic activities prevents the D-bifunctional protein from breaking down fatty acids efficiently. As a result, these fatty acids accumulate in the body.[ghr.nlm.nih.gov]
  • Other amino acid side chains alter the shape of this loop due to steric hindrance, and prevent proper NAD binding. Other mutations that exist are due to incorrect polypeptide folding.[en.wikipedia.org]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]

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