Sphingolipidoses

|| Sphingomyelinase || Sphingomyelin in brain and RBCs ||

• Mental retardation
• Spasticity
• Seizures
• Hepatosplenomegaly
• Thrombocytopenia
• Ataxia

| Autosomal recessive || 1 in 100,000[http://ghr.nlm.nih.gov/condition/niemann-pick-disease Niemann-Pick disease] from Genetics Home Reference. Reviewed: January 2008. Based on an incidence in a general population of 1 in 250,000 for types A and B and 1 in 150,000 for type C

| Limited

| Highly variable, infantile neurovisceral Niemann Pick disease (Type A ASMD) is usually fatal before 3 years of age. Estimasted mortality before adulthood for the Chronic visceral form (type B) is around 15-25%. Many live well into adulthood and may reach a normal lifespan. Diagnosis have been made in the 7th decade of life.Uz E, Cipil H, Turgut FH, Kaya A, Kargili A, Bavbek N, Ali A, Ali K. Niemann-Pick disease type B presenting with hepatosplenomegaly and thrombocytopenia. South Med J. 2008 Nov;101(11):1188. doi: 10.1097/SMJ.0b013e3181836b4c. PMID 19088546.McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.

Morbidity and mortality in type B Niemann-Pick disease. Genet Med

2013;15:618–623.Cassiman D, Packman S, Bembi B, et al. Cause of death in patients with chronic

visceral and chronic neurovisceral acid sphingomyelinase deficiency (NiemannPick disease type B and B variant): Literature review and report of new cases.

Mol Genet Metab 2016;118:206–213.

|| α-galactosidase A || Glycolipids, particularly ceramide trihexoside, in brain, heart, kidney ||

• Ischemic infarction in affected organs
• Acroparesthesia
• Angiokeratomas
• hypohidrosis

|| X-linked{{cite web | url = http://emedicine.medscape.com/article/951451-overview | title = Fabry Disease |vauthors=Banikazemi M, Desnick RJ, Astrin KH | date = 2009-07-08 | work = eMedicine Pediatrics: Genetics and Metabolic Disease | publisher = Medscape | access-date = 2010-12-31}}

| Between 1 in 40,000 to 1 in 120,000 live births for males{{Cite journal | last1 = Mehta | first1 = A. | last2 = Ricci | first2 = R. | last3 = Widmer | first3 = U. | last4 = Dehout | first4 = F. | last5 = Garcia De Lorenzo | first5 = A. | last6 = Kampmann | first6 = C. | last7 = Linhart | first7 = A. | last8 = Sunder-Plassmann | first8 = G. | last9 = Ries | first9 = M. | doi = 10.1111/j.1365-2362.2004.01309.x | last10 = Beck | first10 = M. | title = Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey | journal = European Journal of Clinical Investigation | volume = 34 | issue = 3 | pages = 236–242 | year = 2004 | pmid = 15025684| doi-access = free }}

| Enzyme replacement therapy (but expensive)

| Life expectancy among males of approximately 60 years{{Cite journal | last1 = Waldek | first1 = S. | last2 = Patel | first2 = M. R. | last3 = Banikazemi | first3 = M. | last4 = Lemay | first4 = R. | last5 = Lee | first5 = P. | title = Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry | doi = 10.1097/GIM.0b013e3181bb05bb | journal = Genetics in Medicine | volume = 11 | issue = 11 | pages = 790–796 | year = 2009 | pmid = 19745746 | doi-access = free }}

|| Galactocerebrosidase || Glycolipids, particularly galactocerebroside, in oligodendrocytes ||

• Spasticity
• Neurodenegeration (leading to death)
• Hypertonia
• Hyperreflexia
• Decerebration-like posture
• Blindness
• Deafness

|| Autosomal recessive

| About 1 in 100,000 births{{cite web |url= http://ghr.nlm.nih.gov/condition=krabbedisease|title= Krabbe disease|access-date=2008-05-07|date= 2008-05-02|work= Genetics Home Reference|publisher= United States National Library of Medicine}}

| Bone marrow transplant (high risk, potential failure, effectively provides enzyme replacement to the central nervous system from six months post-transplant, if done in the earliest stages; less effective enzyme replacement provision for the peripheral nervous system)

| Untransplanted, and in the case of a failed transplant, generally fatal before age 2 for infants

|| Glucocerebrosidase || Glucocerebrosides in RBCs, liver and spleen ||

• Hepatosplenomegaly
• Pancytopenia
• Bone pain
• Erlenmeyer flask deformity

|| Autosomal recessive

| About 1 in 20,000 live births,[http://www.gaucherdisease.org/what_is.php Gaucher Disease] at National Gaucher Foundation. Retrieved June 2012 more among Ashkenazi Jews

| Enzyme replacement therapy (but expensive)

| May live well into adulthood

|| Hexosaminidase A || GM2 gangliosides in neurons ||

• Neurodegeneration
• Developmental disability
• Early death

|| Autosomal recessive

| Approximately 1 in 320,000 newborns in the general population,[http://emedicine.medscape.com/article/951943-overview GM2 Gangliosidoses – Introduction And Epidemiology] at Medscape. Author: David H Tegay. Updated: Mar 9, 2012 more in Ashkenazi Jews

| None

| Death by approx. 4 years for infantile Tay–Sachs{{Cite journal|title=Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease|first1=Alessandra |last1=Colaianni|first2=Subhashini|last2=Chandrasekharan|first3=Robert|last3=Cook-Deegan|doi=10.1097/GIM.0b013e3181d5a669|pmc=3042321|year=2010|volume=12|issue=4 Suppl|pmid=20393311|pages=S5–S14|journal=Genetics in Medicine}}

|| Arylsulfatase A or prosaposin || Sulfatide compounds in neural tissue || Demyelination in CNS and PNS:

• Mental retardation
• Motor dysfunction
• Ataxia
• Hyporeflexia
• Seizures

|| Autosomal recessive{{cite journal |vauthors=Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP | title = Molecular genetics of metachromatic leukodystrophy | journal = Hum. Mutat. | volume = 4 | issue = 4 | pages = 233–42 | year = 1994 | pmid = 7866401 | doi = 10.1002/humu.1380040402 | doi-access = free }}

| 1 in 40,000 to 1 in 160,000[http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy Metachromatic leukodystrophy] at Genetics Home Reference. Reviewed September 2007

| Bone marrow transplant (high risk, potential failure, effectively provides enzyme replacement to the central nervous system from six months post-transplant, if done in the earliest stages; less effective enzyme replacement provision for the peripheral nervous system)

| Untransplanted, and in the case of a failed transplant, death by approx. 5 years for infantile MLD