This document summarizes a seminar presentation on inborn errors of metabolism given by Akan-Basseylaauraaadeola. It introduces inborn errors of metabolism as genetic diseases caused by defects in metabolism. Examples discussed include glycogen storage diseases, galactosemia, and phenylketonuria. Glycogen storage diseases result from defects in breaking down glycogen in the liver, leading to glycogen buildup. Galactosemia is caused by a defect in the GALT enzyme, preventing the breakdown of galactose. Phenylketonuria is caused by a defect in the phenylalanine hydroxylase enzyme, leading to buildup of phenylalanine. The presentation outlines the
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LAURA’S SEMINAR PP PRESENTATION.pptx
1. CALEB UNIVERSITY, LAGOS STATE
COLLEGE OF PURE AND APPLIED SCIENCE
DEPARTMENT OF CHEMISTRY AND BIOCHEMISTRY
INBORN ERRORS OF METABOLISM
AS A SEMINAR PRESENTATION IN
ESSAY IN BIOCHEMISTRY BCH 388
BY
AKAN-BASSEY LAURAADEOLA
19/5816
SUPERVISOR: PROF. AKIIBINU
(JAN 2023)
3. INTRODUCTION TO INBORN ERRORS OF METABOLISM
(IEM)
• Comprises of different types of genetic diseases caused by defect in
metabolism.
• Due to the defect in enzymes, problems arise like accumulation of substrate,
occurs and interfere with normal function
• It is inherited mainly as autosomal recessive or x-linked disorders and occurs
rarely ranging from 1:100,000.
• The term ‘Inborn Errors of Metabolism’ was coined by Archibald Garrod.
(Shakya, 2017).
5. Inborn Errors of metabolism are grouped into different types which are:
Carbohydrate metabolism disorders
• E.g. glycogen storage disease, galactosemia.
Amino acid metabolism disorders
• E.g. phenylketonuria, albinism.
Fatty acid oxidation metabolism disorders
• E.g. medium-chain acyl CoA dehydrogenase deficiency (MCAAD).
Lysosomal storage disorders
• E.g. Gaucher’s disease.
6. GLYCOGEN STORAGE DISEASES (GSD)
• An autosomal recessive trait formed from the
defect in how glycogen is broken down to
glucose in the liver. Defects in the enzyme
causes glycogen buildup in the liver.
• Von Gierke is an autosomal recessive disorder
caused by defect in gene that encodes glucose-
6-phosphatase enzyme.
• Symptoms of a GSD Patients are
hepatomegaly, hypoglycemia, thin limbs and
doll like faces. (Froissart et al, 2011)
7. GALACTOSEMIA
• An autosomal recessive trait of the carbohydrate metabolism disorder caused
by the defect in Galactose-1-phosphate uridyltransferase (GALT) enzyme.
• Patients with this disorder can phosphorylate galactose but not galactose-1-
phosphate.
• Symptoms are jaundice, cataracts, hepatomegaly, poor growth. Consequences
are elevation of substrates (galactose and galactose-1-phosphate) in the
tissues, blood and urine (galactosuria).
• Prevention of meals rich in lactose and galactose should be adopted and dairy
free products should be recommended to Galactosemic patients. (Berry et al,
2016).
8. PHENYLKETONURIA
• An autosomal recessive disorder caused by defect
in liver enzyme phenylalanine hydroxylase which
converts phenylalanine to tyrosine.
• Enzyme defect of this order causes mental
retardation, poor skin pigmentation, musty body
odor and seizures.
• PKU patients should avoid foods high in protein
and adopt the habit of low protein common food
intake (Shakya, 2017).
9. References
• Berry, G.T., Walter, J.H., Fridovich-Keil J.L. (2016). Disorders of Galactose
Metabolism. In: Saudubray, JM., van den Berghe, G., Walter, JH., eds. Inborn
Metabolic Diseases: Diagnosis and Treatment, 6th ed, NewYork: Springer-
Verlag Inc; p 39–47.
• Elhawary, N.A., AlJahdali, I.A., Abumansour, I.S. et al. Genetic etiology and
clinical challenges of phenylketonuria. Hum Genomics 16, 22 (2022).
• Froissart, R., Piraud, M., Boudjemline, A. M., Vianey-Saban, C., Petit, F.,
Hubert-Buron, A., Eberschweiler, P. T., Gajdos, V., & Labrune, P. (2011).
Glucose-6-phosphatase deficiency, Orphanet journal of rare diseases, 6, 27.
• Lehninger Principles of Biochemistry, Sixth Edition, 2013.
• Shakya, A.K. (2017). Advances in Biochemistry & Applications in Medicine.
1st Edition.
