Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single and multiple pathways. Interpretation of whole exome sequencing results, insights into pathological...

because of the high rate of consanguineous marriages, metabolic disorders, both micromolecular and macromolecular types, are very prevalent in our population. they constitute a very important health problem in this community. they are mostly an enzymopathy or genetic disease. most of them are the result of a homozygous or compound heterozygous mutation in many different genes which are responsi...

INTRODUCTION This review explores the meaning and origins of aggression in early years. Eight pathways to aggression with origins in early childhood are suggested. These include: the contribution of individual factors; the effects of disturbed family dynamics; parental characteristics and parenting practices; the impact of exposure to violence and the influence of attachment relationships. Othe...

THE RAPIDLY GROWING list of inborii errors of metabolism has largely defied satisfactory classification (1). Some of these disorders fall into neat biochemical analogues with no unifying clinical theme, whereas others can be grouped into anatomic pigeonholes or into schemes related to organ systems although there is not the slightest biochemical relationship. There are a few instances where ord...

Recent findings in this laboratory1' 2 and elsewhere3 , 4have permitted an understanding of some aspects of mental diseases in relation to the hormone-like compound, serotonin. Furthermore, these findings lead directly to a suggestion for a logical treatment of diseases known as "schizophrenia." The experimental observations have been made solely on laboratory animals, but they have reached a p...

Congenital adrenal hyperplasia is a disorder occurring in both sexes and is the commonest cause of ambiguous genitalia. It is a group of autosomal recessive disorders in which, on the basis of an enzyme defect the bulk of steroid hormone production by adrenal cortex shifts from corticosteroids to androgens. Autosomal recessive mutations in the CYP21, CYP17, CYP11B1 and 3betaHSD genes that encod...

The genetic and phenotypic heterogeneity of autism spectrum disorders (ASD) presents a substantial challenge for diagnosis, classification, research, and treatment. Investigations into the underlying molecular etiology of ASD have often yielded mixed and at times opposing findings. Defining the molecular and biochemical underpinnings of heterogeneity in ASD is crucial to our understanding of th...

Mitochondrial disorders are a group of genetically heterogeneous complex diseases [1–6]. Although mitochondrial structure and function involve two genomes, the biogenesis of mitochondrion and more than 99 % of its protein contents are encoded by the nuclear genome [7]. As a result, the majority of the mitochondrial disorders are caused by molecular defects in the nuclear genome [5, 6, 8–10]. Ea...

Functional mitochondrial respiratory chain and oxidative phosphorylation systems are obligate requirements for the normal function of most eukaryotic cells. When a defect of one of these systems occurs in humans, it results in a variety of clinical symptoms according to the severity of the defect and the tissues involved. Defects of all five multisubunit complcxes comprising the respiratory cha...

Biochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative diagnostic criteria. Pathogenic mutations causing mitochondrial disorders have now been identified in more than 30 mitochondrial DNA (mtDNA) genes encoding respiratory chain subunits, ribosomal- and t-RNAs. mtDNA mu...