Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

van de Ven, Steffi

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. [electronic resource] - Journal of inherited metabolic disease May 2014 - 383-90 p. digital

Publication Type: Case Reports; Journal Article

1573-2665

10.1007/s10545-013-9660-9 doi


1-Pyrroline-5-Carboxylate Dehydrogenase--deficiency
Adenosine Triphosphate--biosynthesis
Adolescent
Amino Acid Metabolism, Inborn Errors--complications
Biopsy
Child
Female
Humans
Male
Mitochondria--metabolism
Mitochondrial Diseases--diagnosis
Muscles--pathology
Proline Oxidase--deficiency
Treatment Outcome
Vitamin B 6--administration & dosage