Table Info

Table 2.

Clinical and laboratory findings useful for orienting diagnosis of some genetic metabolic liver diseases with hepatic steatosis [19]

Clinical/laboratory findings	Possible genetic-metabolic causes	Prevalence	Liver involvement
Pancreatic failure, hematological disorders	Schwachman syndrome	1:50000	+++¹
Asymptomatic, hemolysis	Wilson disease	1.30000	+++
Previous neonatal cholestasis, hepatomegaly	Alfa 1 antitrypsin deficiency	1:7000	+++
Hypoglycemia, hepatomegaly	Glycogen storage disease (I, VI, IX)	From 1:00000 to 1:1000000	+++
Fructose refusal, hepatomegaly	Hereditary fructose intolerance	1:20000	+++
Lethargy, increased serum ammonia levels	Urea cycle defects	1:30000 (all disorders)	++
Chubby face, fatty liver, specific serum amino acids pattern	Citrin deficiency	1:20000 (east Asia)	++
Failure to thrive, lactic acidosis	Mitochondrial disease	1:8500	+
Failure to thrive, ketoacidosis, hypoglycemia	Organic acidosis	1:1000 (all disorders)	+
Mild coagulopathy, clinical phenotype	Congenital disorders of glycosylation	From 1.10000 to 1.100000	+
Short stature, female gender, karyotype	Turner syndrome	1:2000	+
Failure to thrive, positive sweat test	Cystic fibrosis	1:2500	+

Possible in 1–2 years of life; + Possible; ++ Frequent; +++ Almost always

Supplementary materials

The supplementary material for this article is available at: https://www.explorationpub.com/uploads/Article/file/100151_sup_1.pdf.

Declarations

Author contributions

MCR, AC and PV contributed conception and design of the study and reviewed the literature; CM wrote the first draft of the manuscript; MCR, AC, AGEDA, LN, PV and CM wrote sections of the manuscript. All authors contributed to manuscript revision, read, and approved the submitted version.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

Not applicable.

Funding

Not applicable.

Copyright

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