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Results 1 - 4 of 4 for Sphingolipid activator protein 1 deficiency
  1. Metachromatic leukodystrophy 
    ... Genetic Testing Registry: Metachromatic leukodystrophy Genetic Testing Registry: Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  2. PSAP gene 
    ... ATYPICAL, DUE TO SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA NCBI Gene ClinVar Al-Hassnan ZN, Al ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  3. PPT1 gene 
    ... Dye L, Mukherjee AB. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing ... Mole SE. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology. 2007 Jan ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  4. GM2A gene 
    ... have been identified in people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is ... the typical signs and symptoms of GM2 activator deficiency. More About This Health Condition ganglioside GM2 activator ...
    https://medlineplus.gov/genetics/gene/gm2a - Genetics