Services Offered

Clinic Services

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.

Laboratory Services

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)

Tandem MS
Congenital metabolism diseases that can be scanned by amino acid and acyl carnitine examinations with Tandem Mass Spectrometry method are listed below.

Phenylketonuria
Tyrosinemia type I
Homocystinuria
Hypermethioninemia
Maple syrup urine disease
Non-ketotic hyperglycinemia
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

Organic acidemias

Methylmalonic acidemia
Propionic acidemia
Isovaleric acidemia
Glutaric acidemia type I
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
Beta-ketothiolase defficiency

Urea cycle enzyme defects

Citrullinemia
Argininosuccinic aciduria

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)

Zellweger syndrome,
X-linked genetic inheritance adrenoleukodystrophy (ALD)
Refsum disease
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.

SAICAR
Urine specimen is tested with this method. Purine-pyrimidine metabolism disorders are diagnosed.