| 11. | Childs studied the genetics of adrenal hyperplasia, Crigler-Najjar syndrome, and propionic acidemia.
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| 12. | Glutaric acidemia type 1 occurs in approximately 1 of every 30, 000 to 40, 000 births.
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| 13. | An excess of acid in the blood is called acidemia and an excess of base is called alkalemia.
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| 14. | The presence of methylmalonic acidemia can also be indicated through the use of a CT scan or ammonia test.
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| 15. | In addition, acidemia causes an extracellular shift of potassium, but respiratory acidosis rarely causes clinically significant hyperkalemia.
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| 16. | Biotin deficiency on its own can have severe physiological and cognitive consequences that closely resemble symptoms of organic acidemias.
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| 17. | Because renal excretion is the primary means of eliminating from the body, there is consequently a tendency towards acidemia.
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| 18. | Mutations in both copies of the " PCCA " or " PCCB " genes cause propionic acidemia.
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| 19. | Deficiency of hepatic fructose 1, 6-biphosphate ( FBPase ) causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.
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| 20. | The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others have severe problems.
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