Università degli Studi di Urbino Carlo Bo / Portale Web di Ateneo


Inborn errors of metabolism: from Garrod to molecular era.
Gli errori congeniti del metabolismo: da Garrod all'era molecolare.

A.Y. Credits
2019/2020 8
Lecturer Email Office hours for students
Francesco Palma Monday and Friday. Please contact the professor by email or phone.
Teaching in foreign languages
Course with optional materials in a foreign language English
This course is entirely taught in Italian. Study materials can be provided in the foreign language and the final exam can be taken in the foreign language.

Assigned to the Degree Course

Sanitary Nutritional and Environmental Biology (LM-6)
Date Time Classroom / Location
Date Time Classroom / Location

Learning Objectives

The course will focus the study of the molecular mechanisms whose alterations are the basis of human metabolic diseases. The course will also address the molecular techniques of genome typing for both the diagnosis of genetic diseases and the assessment of the genetic predisposition to metabolic diseases will be considered.



1.  Introduction.

The biochemical genetics. The WTO definition of health. Disease, disorder, condition, syndrome. The inherited metabolic diseases. The multifactorial metabolic diseases. The endocrine-metabolic diseases.

2.  The metabolism in humans.

Bioenergetics Enzymatic catalysis. Isozymes, allozymes and the genetic variants of enzymes. Nutrition in brief

3.  Anatomy of the human genome.

Genome packaging in eukaryotes. The modification of nucleosomes. Satellite DNA. Alphoid probes. The centromere. Eukaryotic chromosome structure. Transposons. Barbara McClintock's controlling elements. Retrotransposons. LINEs and SINEs repeats. The Alu family. Gene and gene-related sequences in human genome. Gene family. α- and β-globin loci. Pseudogenes. Ribosomal DNA (rDNA). Nucleolus organizer region.

4.  Molecular basis of antibody diversity.

The human MHC locus. The human IG light-chain loci. The human IG heavy-chain loci. Molecular mechanism of somatic recombination. Allelic exclusion.

5.  Mutations that cause inherited metabolic diseases.

The molecular basis of mutations. Point mutations. Replication slippage. Chromosomic mutations. Hemoglobinopathies and Thalassemias. Karyotype aberrations.

6.  Genetics of metabolic disorders

Inheritance of monogenic diseases. Effects of the mutant allele. Haploinsufficiency. Overdominance. Effects of a mutation in structural genes. Achondroplasia. Autosomal dominant single-gene diseases: incomplete penetrance, variable expressivity. Waardenburg syndrome. Autosomal recessive single-gene diseases: pleiotropy, complementation. X-linked disorders. Genetic heterogeneity.

7.  Genome typing.

Simple sequence length polymorphism. Minisatellites. Paternity test. Microsatellites. Short tandem repeats (STRs) and genetic fingerprinting. The CODIS database. Single nucleotide polymorphisms (SNPs). RFLP techniques. Next-generation sequencing. dbSNP database. SNPs and Alzheimer.

8.  Regulation of gene expression

Core promoter. Assembly of the transcription preinitiation complex. Mediator. Promoter-proximal and long-range regulatory elements.

9.  Signal-transduction.

Intracellular receptors. G protein–coupled receptors. G proteins and their effectors. Receptor-tyrosine kinases. SH2 domain and adapter proteins Mechanism of NF-κB action. STAT activation. RAS pathways.

10.   Inborn errors of metabolism.

Single-gene metabolic disorders. Measures of disease frequency: incidence and prevalence. Genetic disorders of carbohydrates, amino acids and purine metabolism.

11.   Dyslipidaemias.

Plasma lipid transport. Apolipoproteins. Chylomicrons. VLDL, IDL and LDL. HDL. The Fredrickson classification of familial hyperlipidemias. Familial hypercholesterolemia, familial dysbetalipoproteinemia and lipoprotein lipase deficiency.

12.   Hyperglycaemias.

Maintenance of blood glucose homeostasis. Role of insulin: biosynthesis and mechanisms of action. Glucagon's functions. Adrenaline and cortisol. Type 1 diabetes and its metabolic implications. Type 2 diabetes and insulin resistance.

Learning Achievements (Dublin Descriptors)

The student will demonstrate to have acquired the mastery of knowledge on metabolic diseases covered in the course (knowledge and understanding). The student will demonstrate to be able to elaborate independently the acquired notions to identify the molecular mechanisms responsible for the biochemical or metabolic diseases as well as their aetiology (making judgements). The student will demonstrate the ability to integrate and update his knowledge using the main bioinformatics tools (applying knowledge and understanding). The student must also show the ability to clearly communicate the knowledge acquired (communication skills) and the logical conclusions arising from the study of the discipline (learning skills).

Teaching Material

The teaching material prepared by the lecturer in addition to recommended textbooks (such as for instance slides, lecture notes, exercises, bibliography) and communications from the lecturer specific to the course can be found inside the Moodle platform › blended.uniurb.it

Supporting Activities

Anonymous self-assessment tests consisting of closed-ended questions. The tests will be done during the lessons and will not be evaluated for final exam.

Didactics, Attendance, Course Books and Assessment


Classroom lessons.

Course books

Suggested books:
DR Ferrier "Le basi della biochimica" 2015 Zanichelli;
DL Nelson, MM Cox "Introduzione alla biochimica di Lehninger" 2015 Zanichelli.


At the end of the course, the student will have to take an oral exam. The oral exam is preceded by a short, selective test of 6 closed-ended questions drawn from self-assessment tests conducted during the lessons. The test is overcome if 4 correct answers are given to 6. The oral exam will focus on three topics selected during the lessons. The student can chose the first topic. The assessment will be aimed at verifying the student's synthesis skills and communicative and expressive skills as well as the acquisition of appropriate scientific terminology.

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