Phenotype #0000015944
| Individual ID |
00004528 |
| Associated disease |
CA5AD |
| Phenotype details |
a male child was born spontaneously at gestational age 36+2 weeks to non-consanguineous Russian parents. On Day 4 of life, he presented with lethargy, weight loss (15% below birth weight), jaundice, and tachypnea. Initial investigations showed hyperammonemia (316 and 422 mol/L), hyperlactatemia (8.1 mmol/L), mild hypoglycaemia (2.9 mmol/L), metabolic acidosis (pH: 7.16, pCO2 13 mm Hg, HCO3 - 5mEq/l), and ketonuria. Despite fluid resuscitation, sodium bicarbonate infusion, and antibiotics, the neonate’s clinical and biochemical status deteriorated; liver transaminases and synthetic function remained normal. Metabolic investigations are shown in Table 1; molecular analysis of CPS1 and NAGS did not reveal disease-causing mutations. Carglumic acid and biotin were initiated, along with protein-free formula and intravenous lipids; 12 hours later, the metabolic acidosis and hyperammonemia resolved. He resumed breastfeeding with normal weight gain, ammonia levels, and urine metabolites. Carglumic acid was stopped at 4 months of age, and the infant exhibited normal psychomotor development at age 6m with the use of sick-day formula during illness. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Clara van Karnebeek |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2014-06-18 22:06:55 +02:00 (CEST) |
| Date last edited |
2014-06-18 22:48:31 +02:00 (CEST) |
|
