All individuals with variants in gene CA5A

4 entries on 1 page. Showing entries 1 - 4.
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00001216 - PubMed: van Karnebeek 2014 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents and sister F no Canada white >06y - - - CA5AD neonatal presentation of hyperammonemia, hyperlactatemia, hyperglycemia, abnormal organic aicd profile fitting PC, PCC and 3MCC deficiency; first patient worldwide, along with her brother, diagnosed with Carbonic Anhydrase VA deficiency 1 1 Clara van Karnebeek
00004528 - PubMed: van Karnebeek 2014 2-generation family, 1 affectd, unaffected heterozygous carrier parents M no Russian Federation - - - - - CA5AD 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. 1 1 Clara van Karnebeek
00004529 - PubMed: van Karnebeek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents and 2 sisters, possible affected brother not available for analysis M yes Pakistan - - - - - CA5AD born at term by Caesarian section (because of placenta previa) as the youngest of five children to first-cousin consanguineous Pakistani parents. 13m, after unremarkable development, he presented with a 1-day history of visual unresponsiveness. At admission, he was encephalopathic with hyperammonemia (258 μmol/L), hyperlactatemia (4.9 mmol/L), with a compensated metabolic acidosis (pH 7.43, pCO224.8 mm Hg, HCO3 -14 mEq/l). His encephalopathy improved after 48 hours of intravenous fluids and antibiotics administered for presumed meningo-encephalitis (cultures were negative). At the age of 16 months, he had a similar crisis; there were no signs of liver injury. Further metabolic investigations are shown in Table 1. Sodium benzoate and L-arginine were initiated with improvement after 48 hours, and he was discharged on a protein-restricted diet. Urea cycle defects (OTC [MIM 311250], CPS1 [MIM 237300], NAGS [MIM 2373100] deficiencies), and PC [MIM 266150], citrin [MIM 605814], and biotinidase [MIM 253260] deficiencies were excluded by molecular or enzymatic analyses. Following these two crises, he has demonstrated good developmental progress with only minor learning difficulties (no formal testing was available). He continues to have infrequent episodes of vomiting and ketoacidosis without hyperammonemia or lactic acidosis; the frequency of these episodes has not increased since the withdrawal of sodium benzoate and arginine therapy at 7y 1 1 Clara van Karnebeek
00050549 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? hypertelorism, depressed nasal bridge, generalized hypotonia 1 1 Johan den Dunnen
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