Observations on the coexistence of methylmalonic acidemia and glycinemia

Methylmalonic acidemia and ketotic glycinemia are clinically indistinguishable. Both disorders if untreated are characterized by vomiting, lethargy, failure to thrive, hepatomegaly, ketoacidosis, osteoporosis, neutropenia, and thrombocytopenia. Biochemically, however, they are distinct entities. Gly...

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Veröffentlicht in:	The Journal of pediatrics 1969-05, Vol.74 (5), p.680-690
Hauptverfasser:	Morrow, Grant, Barness, Lewis A., Auerbach, Victor H., DiGeorge, Angelo M., Ando, Toshyuki, Nyhan, William L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis - etiology Amino Acid Metabolism, Inborn Errors - genetics Female Genes, Recessive Glycine - blood Hepatomegaly - etiology Humans Infant Infant, Newborn Intellectual Disability - etiology Male Malonates - analysis Malonates - blood Malonates - urine Pedigree Vitamin B 12 - therapeutic use Vomiting - etiology
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Zusammenfassung:	Methylmalonic acidemia and ketotic glycinemia are clinically indistinguishable. Both disorders if untreated are characterized by vomiting, lethargy, failure to thrive, hepatomegaly, ketoacidosis, osteoporosis, neutropenia, and thrombocytopenia. Biochemically, however, they are distinct entities. Glycinemia patients do not excrete methylmalonate, whereas in methylmalonic acidemia massive urinary methylamalonate is an essential finding. Some patients with methylmalonic acidemia are responsive to massive doses of vitamin B 12.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/S0022-3476(69)80130-7