About The Medical Condition Saccharopine Dehydrogenase Deficiency Disease
Find the definition of the medical term Saccharopine Dehydrogenase Deficiency Disease. Saccharopine Dehydrogenase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Saccharopine Dehydrogenase Deficiency Disease
| Saccharopine Dehydrogenase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Saccharopine Dehydrogenase Deficiency Disease?
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
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