Skip to main content

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):[3541, 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[4547] 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]
\