Prof. Mohamed Mustafa Hafez established the Genetics Unit in 1978 as a scientific school and an advanced and important specialty in the field of advanced technology for genetic engineering, genes and their mutations, chromosomes, hereditary immunity, and metabolic disorders. Genetic diseases in various genetic diseases and early prenatal diagnosis. The unit has become a scientific school in an advanced scientific and technological specialty that includes faculty members, scholars, and technicians.

Service provided: 

The unit provides diagnosis and treatment of various hereditary and metabolic diseases in infants and children using various diagnostic tools including

• Karyotyping

• High-resolution karyotyping

• SMN gene for motor neurons: SMN1 and SMN2 (Exon 7 and Exon 8)

• Mediterranean familial fever (MEFVgene: 13 mutations by real-time PCR)

• Cystic fibrosis (CFTR: 8 common mutations, 16 rare mutations by real-time PCR)

• Fragile X gene

• Azospermia factor AZF gene test for male infertility (Azospermia)

• HPLC (HBA, HBF, HBA2, HBS)

• Thrombophilia for factor II and V Leiden mutation analysis

• Enzyme assay, genetic testing, and enzyme replacement therapy for some lysosomal disorders such as

- Mucopolysaccharidosis type I (Drosema)

- Mucopolysaccharidosis type 2 (Hunterase)

- Mucopolysaccharidosis type IV (Fymzyme)

- Mucopolysaccharidosis type VI (Naglazyme)

Enzyme screening, genetic testing, and enzyme replacement therapy for glycogen storage disease Pompe (myozyme)

• Nutritional treatment of some congenital disorders of metabolism:

- Phenylketonuria (PKU 1,2,3 and Iloprofen combination)

- Glutaric acidemia (XLYS, low try Maxmaid)

- Methylmalonic acid (Anamex infant MMA/PA) 

- Maple Urine Syrup Disease (MSUD anamix)

- Protein-free - High-calorie (Duqi):

* Hyperammonemia

* Disadvantages of the urea cycle

- Low in long-chain triglycerides (LCT) and high in medium-chain triglycerides (85%) (monogen) shown in:

 Long chain fatty acid oxidation

 Chylothorax.

Cystic fibrosis.

 Hyperlipidemia type 1.

 Intestinal lymphangiectasia.

- Intractable malabsorption with steatorrhea.

 Nutrition after surgery in short bowel syndrome.

Other lipid and lymphatic disorders where a low-fat and/or low-LCT and high-MCT diet is indicated.

- Ketocal 3:1 (Fat: Carbohydrate, Protein) is described in:

1. Pyruvate dehydrogenase deficiency

2. Glucose transporter type-1 excretion

3. Intractable epilepsy 

• Treatment of severe hyperammonemia and acute decompensation of UCD

* Carglumic acid (Carbaglu) 

Unit Head:

Mansoura University - Mansoura University Children Hospital (Outpatient Clinics Building - Fourth Floor).