Hacettepe University Faculty of Medicine
Department of Child Health and Diseases
Metabolism and Nutrition Unit
Metabolism and Nutrition Unit offers clinic and laboratory services on screening, diagnosis and treatment of genetic metabolic diseases and on normal child nutrition and nutrition disorders. The unit is located at Hacettepe İhsan Doğramacı Children's Hospital. Furthermore, Newborn Phenylketonuria Screening Program is performed in the unit and the services of the unit are offered by 4 academic staff, 3 chemical engineers, a biologist, 4 health technicians, a nurse, a secretary and an attendant.
Clinic services involve the inpatient and outpatient clinic follow ups of patients. 4 faculty members, a resident and an intern physician participate in this study every month alternately. 20 patients with pre-arranged appointment and consulted patients are examined in the outpatient clinic every day. Patients are not admitted directly to the unit, patients with pre-diagnoses of metabolic diseases or nutrition disorders are examined in general pediatrics outpatient clinic and patients who are proved to have metabolic diseases or nutrition disorders are followed up. Patients who are not followed in our outpatient clinics are not received appointments by telephone, only patients under our follow up can schedule appointments by telephone. Faculty members do not admit private patients within or without the hospital.
3 different laboratories are available in the unit.
• Phenylketonuria Screening Laboratory
• Primary Care Metabolic Testing Laboratory
• Advanced Metabolic Diseases Research Laboratory
Phenylketonuria Screening Laboratory
In the phenylketonuria laboratory within the scope of the unit, neonates from 74 provinces are scanned in terms of phenylketonuria with the cooperation of Ministry of Health and Association for Screening and Protecting Children with Phenylketonuria. If the result of scanning is found to be normal, family of the patient is not informed that the infant is healthy. Infants who are suspected with diseases according to the results of the tests, families of the children are reached and invited to the unit and further tests are performed and cases with phenylketonuria diagnoses are followed up. Blood samples for screening are collected free of charge from community health centers, centers for maternal and infant health and state hospitals that offer birth service.
Primary Care Metabolic Testing Laboratory
2 chemical engineers and 2 medical technicians work in this laboratory.
The tests listed below are performed in the laboratories.
Plasma sample tests
Amino acid paper chromatography, Phenylalanine level, Tyrosine level, Phenylalanine loading test, BH4 loading test
Biotinidase enzyme activity determination, Ammonia level, Lactic acid level, Pyruvic acid level, Magnesium level, Zinc level,
Ceruloplasmin level, Selenium level, Vitamin C level, Vitamin A level, Vitamin E level, Total carnitine level
Urine specimen tests
Amino acid chromatography, pH, Determination of reductant, Determination of Ketone, FeCl3 test, Determination of ketoacid, Methylmalonic acid test, Nitroprusside acid test,
Determination of orotic acid, Determination of creatinine, Sugar chromatography, Determination mucopolysaccharide, Sodium hydroxide test, Sulphide test, Thiosulfate test,
Determination of cystine in the urine
Stool specimen tests
pH, Determination of reductant, Steatocrit, Sugar chromatography
Advanced Metabolic Diseases Research Laboratory
A chemical engineer, a biologist and a medical technician offer service in the laboratory. Devices and services of the laboratory are listed below.
• Tandem MS (Sequential Mass Spectrometry)
• GC-MS (Gas Chromatography-Mass Spectrometry)
• HPLC (High Performance Liquid Chromatography)
Congenital metabolism diseases that can be scanned by amino acid and acyl carnitine examinations with Tandem Mass Spectrometry method are listed below.
Tyrosinemia type I
Maple syrup urine disease
Fatty acid oxidation disorders
Short-chain acyl CoA dehydrogenase deficiency
Medium-chain acyl CoA dehydrogenase deficiency
Very long-chain acyl CoA dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long-chain 2.4-dienoyl CoA reductase deficiency
Multiple acyl CoA dehydrogenase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Glutaric acidemia type I
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
Urea cycle enzyme defects
Ornithine transcarbamylase deficiency and other urea cycle enzyme defects depending on glutamate increase
GC-MS (Gas Chromatography-Mass Spectrometry)
With peroxisomal profile analysis (plasma VLCFA, pristanic acid, phytanik acid)
X-linked genetic inheritance adrenoleukodystrophy (ALD)
Rhizomelic chondrodysplasia punctata (RCDP)
can be diagnosed.
Organic acid test is performed in urine. The diseases diagnosed by this test are listed below.
Multiple carboxylase deficiency, Multiple acyl CoA dehydrogenase disorders, Succinic dehydrogenase deficiency, Propionic acidemia,
Methylmalonic acidemia, Isovaleric acidemia, Glutaric aciduria type I and II, 3-methylcrotonyl-CoA carboxylase deficiency,
MCAD (medium chain acyl CoA dehydrogenase deficiency), SCAD (short chain acyl CoA dehydrogenase deficiency),
LCAD (long chain 3 hydroxyacyl CoA dehydrogenase deficiency), VLCAD (very long-chain acyl CoA dehydrogenase deficiency),
2-hydroxyglutaric aciduria, Lack of 5-oksoprolinaz, Canavan disease, Tyrosinemia type I and other forms, Mevalonic aciduria,
D-Glyceric acidemia, 3-OH-3-methylglutaryl CoA lyase deficiency, Mitochondrial diseases, MSUD (maple syrup urine disease), 2-oxoadipic aciduria,
Dihydrolipoyldehydrogenase deficiency, Alkaptonuria, 4-OH butyric aciduria
7-dehydrocholesterol is tested in plasma samples (Smith- Lemli- Opitz syndrome).
HPLC (Post-derivatization technique applied Ion Alternated- High Performance Liquid Chromatography)
Amino acid analysis (saline solution, plasma, urine and cerebrospinal fluid samples are tested quantitatively). Diseases diagnosed with this test are:
Phenylketonuria, MSUD, Homocystinuria, Hypermetioninemy, Citrullinemia, Argininosuccinic acidemia, Tyrosinemia Type I, II, III, Argininemia,
Non-ketotic hyperglycinemia, Hyperammonemia - hyperornithinemia - homocitrullinemia (HHH) syndrome Cystinuria, Prolanemia, Lysurinic protein intolerance,
Gyrate atrophy, Hyperlysinemia, Serine deficiency
Leukocyte cystine level (is quantitative tested with blood sample collected into special tubes containing ACD quantitative. Diseases diagnosed with this test are:
Heterozygous cystinosis, Homozygous cystinosis, Nephropathy cystinosis, Adolescent cystinosis, Benign cystinosis
GALT (galactose-1-phosphate uridyltransferase) Enzyme Activity
Galactose1-p-uridyl transferase enzyme activity is tested with blood sample collected to Guthrie paper with Elisa method. The disease diagnosed with this test is galactosemia.
Urine specimen is tested with this method. Purine-pyrimidine metabolism disorders are diagnosed.
In the unit, patients with phenylketonuria are examined on Mondays, Thursdays and Fridays. On Tuesdays and Wednesdays, other metabolic diseases and nutrition disorders are followed up. Followed up patients can schedule appointments right after examinations or later by telephone. Appointments for patients who are not followed up by the unit or requested consultation by other departments of our hospital are not booked by telephone.
Patients who would like to book appointment can apply by our telephone numbers, to Secretary Ayşegül Yavuz.
The unit is on the 5th floor of Block 1 of Hacettepe İhsan Doğramacı Children’s Hospital.
+90 (312) 310 08 63
+90 (312) 305 11 84
+90 (312) 305 11 41