Fibrolblast culture studiesHot
Investigations in Child Neurology 1687 0
The storage of cultured fibroblasts, like the retention of DNA samples, is one of the prerequisites for later genetic diagnosis of unexplained disorders. Some types of fibroblast study are particularly important
Investigating Golgi and Endoplasmic Reticulum DisordersHot
Investigations in Child Neurology 2317 0
Golgi and endoplasmic reticulum disorders (congenital defects of glycosylation) Attaching sugar molecules to proteins or lipids (glycosylation) is mediated by the Golgi apparatus or complex and by the endoplastic reticulum and is necessary for numerous biochemical functions. Defects may be divided into soluble and structural abnormalities. The 'soluble' congenital defects of glycosylation (CDG) - predominantly defects of N-glycosylation - are many and increasing in number but by far the most important is CDG1a. 'structural' defects of O-glycosylation comprise congenital and later onset muscular dystrophies and are investigated by completely different...
Investigating Peroxisomal DisordersHot
Investigations in Child Neurology 3615 0
Peroxisomes are spherical 1pm diameter organelles with a multitude of oxidative and other enzymes packed within a single-layered membrane (http://www.peroxisomedb. org) global' peroxisomal disorders with impaired peroxisomal biogenesis (fewer or even no peroxisomes), together with those single peroxisomal enzyme defects that induce a similar phenotype (in particular, D-bifunctional protein deficiency) adrenoleukodystrophy, due to an X-linked defect of the peroxisomal ABCD1 gene that codes for the peroxisomal membrane protein ABCD1, a member of the ATP-hmding cassette transporters. While estimation of very...
Investigating Mitochondrial DisordersHot
Investigations in Child Neurology 3964 0
Mitochondrial disorders With the explosion of knowledge about disorders of the mitochondria, definitive investigations have become more complex and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests support the diagnosis sufficiently to proceed to specific investigations of mitochondrial function. To a certain extent there is a relationship between the type of disease and the site of metabolic defect along the pathway from the inner mitochondrial membrane to the termination of the respiratory chain, but there is considerable heterogeneity. It has long been known that most of the...
Investigating Lysosomal disordersHot
Investigations in Child Neurology 2084 0
Lysosomal enzyme deficiencies may be sought in serum or plasma, in leukocytes (white cell pellet) or in cultured fibroblasts. Although it is evident that there is great variation in the severity of the neurological disorders which may result from a severe lysosomal enzyme deficiency, extreme caution is necessary when partial deficiency is found, particularly 'within the heterozygous range', since in some of these disorders the prevalence of heterozygosity is quite high in the normal population. The term 'pseudodeficiency' is used in lysosomal storage diseases to denote the situation in which individuals show greatly...
Biochemical investigations in BloodHot
Investigations in Child Neurology 4520 0
Biochemical investigations in UrineHot
Investigations in Child Neurology 5155 0
Investigations in Child Neurology 2713 0
Investigations in rare treatable disordersHot
Investigations in Child Neurology 6294 0
Condition Presentation Key investigations Treatment Autosomal-recessive guanosine triphosphate (GTP) cyclohydrolase 1 (AR-GCH1) deficiency without hyperphenylalaninaemia (those with high blood phenylalanine will have been detected by neonatal screening test) 'Cerebral palsy'; oculogyric crises, tremulousness, bradykinesia Avoid levodopa trial to prevent diagnostic confusion, phenylalanine loading test is simple to perform: 4 hour blood spot phenylalanine level will be high as will phenylalanine/tyrosine ratio. C5F pterins low, monoamine...
Progressive loss of skills and dementiaHot
Investigations in Child Neurology 7846 0