SELECTIVE
SCREENING FOR METABOLIC DISORDERS IN THE NICU CAIRO UNIVERSITY HOSPITALS
Seoud I.*, Orabi A*, Rashed M.**, Eid A.***, Hannai
J.****, & Mahmoud R.*
From the Pediatrics* &
Biochemistry*** Departments, Cairo University, King Faisal Specialist Hospital
S.A.** & Sapporo city Institute of Public Health, Japan****
Abstract: Neurometabolic disorders
constitute an important largerly preventable cause of neurologic handicap
in Egypt. Many of the metabolic disorders present in the neonatal period
simulating other more common neonatal disorders. The aim of the present
work is to identify as well as manage cases with inborn errors of
metabolism (IEM) presenting in the neonatal period, and to highlight the
importance of these disorders in the differential diagnosis of other
neonatal disorders in a country with a high rate of consanguinity and a
high rate of neonatal stressful conditions that would further compromise a
disordered metabolic state.
Subjects & Methods: The present study
included 34 patients selected from the NICU, Cairo University Hospitals. It
is a tertiary care hospital with referral cases from all over the country
Selection criteria included, 1) altered neurologic state (hypotonia,
altered state of consciousness) in the absence of HIE. 2) Respiratory
distress, vomiting, dehydration or persistent metabolic acidosis for
unknown reason �� 3) history of a previous similarly affected sib .All cases
were subjected to full clinical evaluation initially &on daily basis.
Beside routine lab workup of NICU (Complete blood picture, bl. gases &
pH, cultures, electrolytes, bl. Glucose) metabolic studies included blood
ammonia, bl. lactate & pyruvate and MS/MS for amino acids &
acylcarnitine profile as well as reducing substances in urine.
Results: Of the 34 suspected
cases 20 were diagnosed as having an IEM, of whom 13 had lactic acidemia, 4
urea cycle defects and 2 organic acidemias (1 case isovaleric acidemia
& one methylmalonic acidemia) as well as 1 case with carnitine
deficiency and (a questionable diagnosis). The relevant clinical data in
diagnosed/suspected cases were as follows; altered consciousness 11/16;
impaired reflexes 15/26, hypotonia 11/16, hypertonia 3/5, vomiting 2/3,
pallor 2/2, convulsions 17/29 & dysmorphic features 8/14. We conclude
that: Lactic acidemias as a group are the most commonly met IEM in this age
group, however, the frequency of urea cycle disorders (4/34) and organic
acidemias (2/34) is still considerable. Diagnosis rate of IEM in the
present study is relatively high (20/34) implying a strict inclusion
criteria, accordingly we recommend to expand the criteria for screening for
IEM in NICU.