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Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

MONDO:0014332

Also known as: CA-VA deficiency, hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5AD, carbonic anhydrase 5A deficiency, hyperammonemia due to, carbonic anhydrase VA deficiency, carbonic anhydrase VA deficiency, hyperammonemia due to, hyperammonemia due to carbonic anhydrase VA deficiency, mitochondrial carbonic anhydrase va deficiency

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Glucose metabolism disease (60) Inborn errors of metabolism (45) Human disease (14) Urea cycle disorder (12) Inborn disorder of amino acid metabolism (4) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2)

Trials to join now! 4 Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC