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We have recently encountered with a 9 month old boy, the second in birth order of non-consanguineous parents who presented to the genetics clinic by coma. He was born by cesarean section due to decreased fetal kicks with a birth weight of 2.8 kg. The main complaint of the parents before his presentation was the severe failure to thrive documented by his weight of five kg at presentation. He had global developmental delay as he was unable to support his head till the age of 6 months and was unable to sit till his presentation. He was able to reach objects at the age of 6 months but was not able to transfer objects from one hand to the other. He was able to recognize his parents at the age of 6 months. At the age of 8 months, he had an event of pneumonia and a week later he developed convulsions that progressed rapidly to coma and was diagnosed as encephalitis. He received anticonvulsants, antibiotics, antiviral treatments with no response regarding coma recovery although his chest infection improved and the convulsions were controlled. Brain magnetic resonance Imaging (MRI) brain revealed bilateral deep cerebral white matter hypomyelination. Both metachromatic leukodystrophy and Krabbe disease were excluded by enzyme assay. The patient was then referred to exclude metabolic encephalopathy. Extended metabolic screen was done by tandem mass spectrometry and showed increased phenylalanine level to 748 lmol/l (normal 0–180) and increased glycine level of 657 (normal 0–341). Urinary organic acids showed increased phenyl lactic, phenyl acetic and phenyl pyruvic acid. Urine neopterin and biopterin analysis showed low biopterin (0.14 mmol/mol creatinine, normal value = 0.70–5.300) and elevated neopterin (60.66 mmol/mol creatinine, N= 1.20–14.50) indicative for tetrahydrobiopterin (BH4) biosynthesis deficiency, specifically 6-pyruvoyltetrahydropterin synthase (PTPS) deficiency which was confirmed by molecular testing which revealed homozygous for c.200C>T, p.(Thr67Met) of the 6-pyruvoyltetrahydropterin synthase (PTS) gene. Unfortunately the patient died before testing result of the urine neopterin was finished. Discussion

BH4 deficiency with unusual presentations: Challenges and lessons