Qbank-Biochemical Genetics Newborn Screening

Biochemical Genetics Newborn Screening

Pdf Summary

The document consists of multiple sections authored by Claudia Barnett, each addressing topics in Biochemical Genetics/Newborn Screening. These sections contain questions regarding biochemical genetic disorders, their diagnosis, and treatment strategies applicable to newborn screening.<br /><br />One question inquires about the diagnosis of an infant with specific symptoms such as progressive liver failure and elevated succinylacetone in urine, pointing towards a diagnosis of hepatorenal tyrosinemia, also known as tyrosinemia type I. This disorder results from a defect in the enzyme fumarylacetoacetate hydrolase (FAH).<br /><br />Another section explores X-linked adrenoleukodystrophy, highlighting its major biochemical abnormality: the accumulation of very long-chain fatty acids. Fabry disease, characterized by a deficiency in the enzyme α-galactosidase, is also examined. <br /><br />The document addresses conditions like Leigh Syndrome, indicating it commonly arises from mutations in nuclear genes rather than mitochondrial DNA. Other disorders such as Maple Syrup Urine Disease (MSUD) are discussed, including its presentation during metabolic decompensation and the avoidance of certain treatments.<br /><br />One critical case discusses an infant with symptoms indicating Galactosemia, caused by a deficiency in galactose-1-phosphate uridyltransferase (GALT).<br /><br />Lastly, the document provides insights into various genetic deficiencies and disorders identified through newborn screening tests, focusing on accurate diagnostic methods. These include analyses for specific enzyme activities, metabolite levels, and genetic testing to ensure early detection and management of potential metabolic disorders in newborns. Each section provides practical commentary, implications for patient care, and references for further study, reflecting a comprehensive approach to biochemical genetics in newborns.

Keywords

Biochemical Genetics

Newborn Screening

Hepatorenal Tyrosinemia

Fumarylacetoacetate Hydrolase

X-linked Adrenoleukodystrophy

Very Long-Chain Fatty Acids

Fabry Disease

Leigh Syndrome

Maple Syrup Urine Disease

Galactosemia