Phenotypes for disease #00425 (CA5AD (deficiency, carbonic anhydrase VA, hyperammonemia (CA5AD)), OMIM:615751)

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000015944 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. - - Familial, autosomal recessive - - - - - Clara van Karnebeek 00004528
0000015945 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 - - Isolated (sporadic) - - - - - Clara van Karnebeek 00004529
0000015946 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 - - Familial, autosomal recessive - - - - - Clara van Karnebeek 00001216
0000070124 neonatal hyperammonemia, hyperlactatemia, hypoglycemia; mild IDD; hyperammonemia, hyperlactatemia, hypoglycemia, PCC and 3MCC deficiency metabolites - - Familial, autosomal recessive - - - - - Johan den Dunnen 00091680
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.