Age at onset | Initial symptoms | Initial investigations | DNA analysis | Outcome | |
Patient 1 (male) | 5 years | Running into a wall, nausea, vomiting | EEG with slow delta waves, CCT normal, Total blood count and C reactive protein normal, ALT slightly elevated, NH4 + initially not taken, later clearly elevated (400–906 μmol/l) | G>A exchange of the first base of codon 208 changing alanine to threonine. Typical for late onset disease in males3 | Died on day 14 |
Patient 2 (female) | 3½ years | Attacks of absence, increasing signs of aggression, confusion, sleeplessness, atetotic movements of upper limbs | EEG with signs of general disturbance on both hemispheres, slight hyperammonaemia (123 μmol/l), ALT elevated (299 U/l), citrulline decreased (13 μmol/l), first urinary orotate was normal | Heterozygosity for an A>G mutation in codon 80 changing lysine into glutamic acid; not formerly described | Alive, development almost normal, disease under control |
Patient 3 (male) | 1 year 3 months | Increasing weariness, crying, restlessness, vomiting | CCT normal, ALT elevated (102 U/l), NH4 + fluctuating (67–218–146 μmol/l), citrulline decreased (<10 μmol/l), urinary orotate elevated (220 μmol/mmol creatinine) | Abnormal migration pattern at exon 8 with a deletion of a GAG triplet corresponding to codon 272 or 273 causing deletion of one adjacent glutamic acid residue. Formerly described for late onset5 | Alive, development almost normal, disease under control |
Patient 4 (female) | 4 years 8 months | Outbursts of rage and fury, clumsy walk, slurred speech, emotional lability | ALT elevated (64–119 U/l), NH4 + fluctuating (143–201–124 μmol/l), low citrulline (13 μmol/l), urinary orotate elevated (95 μmol/mmol creatinine) | Abnormal migration pattern in exon 3 with a CGA (Arg) to CAA (Gln) mutation of codon 92. One of the first mutations described4 | Alive, development normal, disease under control |
[Patient 5] (male) The patient is a brother of patient 3 and was therefore neonatally screened for ornithine transcarbamylase deficiency and revealed the same mutation as his brother (see patient 3). He was initially treated and yet had no episodes of hyperammonaemia. His development is normal |
CCT, cranial computed tomography.