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Alpha-N-acetylgalactosaminidase deficiency type 1

MedGen UID:
373113
Concept ID:
C1836544
Disease or Syndrome
Synonyms: ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; NAGA deficiency, type 1; NAGA DEFICIENCY, TYPE I; NEUROAXONAL DYSTROPHY, SCHINDLER TYPE; Schindler Disease; Schindler disease, type 1; SCHINDLER DISEASE, TYPE I
SNOMED CT: Schindler disease type 1 (879937000); Alpha-N-acetylgalactosaminidase deficiency type 1 (879937000); NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1 (879937000)
Modes of inheritance:
 
NAGA (22q13.2)
 
Monarch Initiative: MONDO:0012221
OMIM®: 609241
Orphanet: ORPHA79279

Definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may experience weakness and loss of sensation due to problems with the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are characteristic of this form of the disorder.

There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). As the disorder progresses, affected individuals develop blindness and seizures, and eventually they lose awareness of their surroundings and become unresponsive. People with this form of the disorder usually do not survive past early childhood.

Schindler disease type III is intermediate in severity between types I and II. Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people with this form of the disorder show neurodevelopmental problems beginning in early childhood, with some features of autism spectrum disorder. Autism spectrum disorder is characterized by impaired communication and socialization skills.

Schindler disease is an inherited disorder that primarily causes neurological problems.  https://medlineplus.gov/genetics/condition/schindler-disease

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-N-acetylgalactosaminidase deficiency type 1

Recent clinical studies

Diagnosis

Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR
J Mol Neurosci 2020 Jan;70(1):45-55. Epub 2019 Aug 29 doi: 10.1007/s12031-019-01398-6. PMID: 31468281
Sarbu M, Zhu F, Peter-Katalinić J, Clemmer DE, Zamfir AD
Rapid Commun Mass Spectrom 2015 Nov 15;29(21):1929-37. doi: 10.1002/rcm.7288. PMID: 26443390
Sarbu M, Robu A, Peter-Katalinić J, Zamfir AD
Carbohydr Res 2014 Oct 29;398:90-100. Epub 2014 Sep 6 doi: 10.1016/j.carres.2014.08.014. PMID: 25243357
Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R
Anal Bioanal Chem 2014 Jul;406(18):4337-43. Epub 2014 May 2 doi: 10.1007/s00216-014-7832-6. PMID: 24788891

Clinical prediction guides

Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R
Anal Bioanal Chem 2014 Jul;406(18):4337-43. Epub 2014 May 2 doi: 10.1007/s00216-014-7832-6. PMID: 24788891

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