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Table 3 Lysosomal storage diseases and non- lysosomal inborn errors of metabolism associated with NIHF

From: Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

Lysosomal storage diseases

Non-lysosomal inborn errors of metabolism

transient NIHF/ascites

NIHF with prominent ascites

NIHF (pericardial and/or pleural effusion, ascites, skin edema)

 

Mucopolysaccharidosis:

  

Glycogenosis:

   

Type IV (Anderson disease):[31, 32]

MPS IVA (this publication)

 

MPS IVA (Morquio)[33, 34]

Congenital disorder of glycosylation:

MPS VII (this publication)

 

MPS VII (Sly):[35–41, 14]

CDG Ia[42, 43]

Peroxismal disorder:

Zellweger syndrome[44]

Sphingolipidosis/Oligosaccharidoses:

  

Fatty acid oxidation defects:

GM1-Gangliosidosis[14, 15] Niemann-Pick C (this publication)

Sialidosis[45–47]

Sialidosis Galactosialidosis[48, 49]

Long-chain-hydroxyacyl CoA dehydrogenase deficiency (LCHAD)[50]

GM1-gangliosidosis[51, 15]

GM1-gangliosidosis[29]

Primary carnitine deficiency[52]

Niemann-Pick C[53, 54]

Gaucher Type II[55]

Cholesterol biosynthesis defects:

Niemann-Pick A[11, 56]

Smith-Lemli-Opitz Syndrome[57]

Niemann-Pick C[58]

Greenberg syndrome: Hydrops-ectopic calcification moth-eaten skeletal dysplasia[59]

Farber disease[9, 60]

Conradi Huenermann: Chondrodysplasia punctata[61] (X linked disorder: male fetus)

Lysosomal transport defect:

Infantile sialic acid storage disease[62]

Infantile sialic acid storage disease[63]

Others:

Citric-acid cycle defect (Fumarase deficiency)[64, 65]

Others:

Wolman disease[66]

Mucolipidosis Type II (I-cell disease)[67]

Neonatal hemochromatosis[20]

   

Transaldolase deficiency[68]

   

S-adenosylhomocysteine hydrolase deficiency[69]

   

Congenital erythropoietic porphyria[70]