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Lysine malabsorption syndrome

MedGen UID:
167097
•Concept ID:
C0796023
•
Disease or Syndrome
Synonym: Lysine Malabsorption Syndrome
 
Monarch Initiative: MONDO:0009542
OMIM®: 247950

Definition

Lysine malabsorption with severe malnourishment, extreme flaccidity, and psychomotor retardation. [from MCA/MR]

Clinical features

From HPO
Hyperlysinuria
MedGen UID:
867368
•Concept ID:
C4021733
•
Finding
An increased concentration of lysine in the urine.
See: Feature record | Search on this feature
Renal tubular lysine transport defect
MedGen UID:
870273
•Concept ID:
C4024714
•
Disease or Syndrome
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Detoxification of gluten by means of enzymatic treatment.
Wieser H, Koehler P
J AOAC Int 2012 Mar-Apr;95(2):356-63. doi: 10.5740/jaoacint.sge_wieser. PMID: 22649919

Supplemental Content

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