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Congenital microcephaly and seizures due to 3‐phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
Author(s) -
De Koning T. J.,
Duran M.,
Maldergem L. Van,
Pineda M.,
Dorland L.,
Gooskens R.,
Jaeken J.,
PollThe B. T.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015624726822
Subject(s) - microcephaly , serine , amino acid , glycine , medicine , inborn error of metabolism , psychomotor retardation , psychomotor learning , dehydrogenase , endocrinology , pediatrics , biology , biochemistry , enzyme , pathology , alternative medicine , cognition , psychiatry
Congenital microcephaly, intractable seizures and severe psycho‐motor retardation characterize 3‐phosphoglycerate dehydrogenase (3‐PGDH) deficiency, a disorder of L‐serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short‐term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow‐up data of amino acid therapy in five patients treated for 3–7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L‐serine. A favourable outcome of 3‐PGDH deficiency depends on early diagnosis and treatment.