François Eyskens | PubMed Health

PubMed2006

Cognitive functioning and psychiatric disorders in children with a metabolic disease.

OBJECTIVE: To report on the intelligence scores and the psychiatric pathology of distinct groups of children with metabolic diseases. METHODS: The study population consists of 53 children between 0 and 18 years of age. Diagnostic assessment included a semi-structured interview, self-report questionnaires and a standard intelligence test. RESULTS: In 40% of the children older than 5 years, a child psychiatric diagnosis was made. While CBCL total and internalizing scores did not differ between metabolic disease groups, the CBCL externalizing scores for some groups did. Two fifths of the children showed a below normal intelligence, while a performal-verbal IQ discrepancy was found in half of the children. Of the school aged children almost one third attended a special needs school. CONCLUSION: In spite of the small sample size, the results suggest substantial psychiatric problems in children with a metabolic disease. Further study on larger groups is warranted, which should enable further comparison of patients affected by specific metabolic diseases.

Adolescent↗

PubMed2003

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in at least 11 distinct genes. The prototype of this group of disorders is Zellweger syndrome (ZS) with neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) as milder variants. Common to PBDs are liver disease, variable neurodevelopmental delay, retinopathy and perceptive deafness. PBD patients belonging to complementation group 10 (CG10) have mutations in the PEX2 gene (PXMP3), which codes for a protein (PEX2) that contains two transmembrane domains and a zinc-binding domain considered to be important for its interaction with other proteins of the peroxisomal protein import machinery. We report on the identification of four PBD patients belonging to CG10. Sequence analysis of their PEX2 genes revealed 4 different mutations, 3 of which have not been reported before. Two of the patients had homozygous mutations leading to truncated proteins lacking both transmembrane domains and the zinc-binding domain. These mutations correlated well with their severe phenotypes. The third patient had a homozygous mutation leading to the absence of the zinc-binding domain (W223X) and the fourth patient had a homozygous mutation leading to the change of the second cysteine residue of the zinc-binding domain (C247R). Surprisingly, the patient lacking the domain had a mild phenotype, whereas the C247R patient had a severe phenotype. This might be due to an increased instability of PEX2 due to the R for C substitution or to a dominant negative effect on interacting proteins.

Base Sequence↗

PubMed2003

Peroxisome mosaics.

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ATPases Associated with Diverse Cellular Activitie↗