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Summary
DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD)
DELTA-AMINOLEVULINATE DEHYDRATASE DELTA-AMINOLEVULINIC ACID DEHYDRASE-DEFICIENCY
612740
OMIM = Online Medalian Inheritance of Men
100924
9q32
very rare
autosomal recessive
symptoms
anemia
failure to thrive
hepatomegaly (large liver)
hypotonia
ileus
muscle weakness
nausea
onset, infancy
onset, neonatal
pain, abdominal
pain, muscle
peripheral neuropathy
splenomegaly (large spleen)
vomiting
laboratory finding
5-Aminolevulinic acid0.000.000.0019.00increasedurinenewborn
Porphyrins increasedurine
Delta-aminolevulinic acid dehydratase decreased activityerythrocytes
Porphyrins increasederythrocytes
Literature
Trefz FKet al.Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterinMol Genet Metab Suppl 1860S75-802005
Jorge-Finnigan A,et al.Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC typeBiochim Biophys Acta180211959-9672010
Suzuki YSakuraba H, Oshima A+ƒ-Galactosidase deficiency (+ƒ-galactosidosis): GM1 Gangliosidosis and Morquio B diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2902785-28231995
Jorge-Finnigan A,et al.Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC typeBiochim Biophys Acta180211959-9672010
Watkins D,Rosenblatt DSInborn errors of cobalamin absorption and metabolismAm J Med Genet C Semin Med Genet157133-442011
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992