Abstract
Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in turn, can cause certain neurometabolic diseases. Disruption of metabolic pathways, and the inhibition at earlier stages, may lead to the storage of reaction intermediates, which are often toxic to the developing brain. Symptoms are caused by the progressive deterioration of mental, motor, and perceptual functions. The authors review the diseases with microcephaly, which may be one of the most visible signs of neurometabolic disorders.
Highlights
Is a developmental malformation characterized by decreased cranial size
This paper presents microcephaly as a clinical manifestation in the course of neurometabolic diseases
Occurs in various types of metabolic diseases such as inborn glycosylation disorders, mitochondrial diseases, peroxisomal disorders, glucose transporter defects, congenital amino acid metabolism disorders, organic acidosis, or lipid metabolism disorders
Summary
Is a developmental malformation characterized by decreased cranial size. The characteristic features include asthenic body build, congenital microcephaly, delayed psychomotor development, intellectual disability, early-onset epileptic seizures, speech delay, cortical malformations, attention deficit hyperactivity disorder, aggression, and irritability. Smith–Lemli–Opitz syndrome (SLOS) is a genetic metabolic disease of autosomal recessive inheritance caused by a mutation in the DHCR7 gene (locus 11q13.4) encoding 7-dehydrocholesterol reductase. The clinical picture of the disease includes progressive microcephaly, spastic paralysis, epileptic seizures, psychomotor retardation, and intellectual disability [22,32,33,34]. Menkes disease (MNK) is a genetically determined neurodegenerative disorder related to the inability to metabolize copper It is caused by the mutation in the ATP7A gene at locus Xq21.1, which encodes a Cu2+-transporting ATPase. These include lice attenuated vaccines, inactivated vaccines, and subunit vaccines [85]
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