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Hyperhydroxyprolinemia

MedGen UID:
75691
Concept ID:
C0268531
Disease or Syndrome
Synonyms: 4 alpha hydroxy-L-proline oxidase deficiency; Hydroxyprolinemia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hyperhydroxyprolinemia (25739007); Hydroxyprolinemia (25739007)
 
OMIM®: 237000
HPO: HP:0003260

Definition

Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline. [from GTR]

Additional description

From OMIM
Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline.  http://www.omim.org/entry/237000

Clinical features

Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Hyperhydroxyprolinemia
MedGen UID:
75691
Concept ID:
C0268531
Disease or Syndrome
Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline.

Conditions with this feature

Hyperphosphatasemia with bone disease
MedGen UID:
75678
Concept ID:
C0268414
Disease or Syndrome
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Hyperhydroxyprolinemia
MedGen UID:
75691
Concept ID:
C0268531
Disease or Syndrome
Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline.

Recent clinical studies

Etiology

Fingerhut R
Eur J Pediatr 2009 May;168(5):599-604. Epub 2008 Aug 6 doi: 10.1007/s00431-008-0804-0. PMID: 18682982

Diagnosis

Fingerhut R
Eur J Pediatr 2009 May;168(5):599-604. Epub 2008 Aug 6 doi: 10.1007/s00431-008-0804-0. PMID: 18682982

Prognosis

Fingerhut R
Eur J Pediatr 2009 May;168(5):599-604. Epub 2008 Aug 6 doi: 10.1007/s00431-008-0804-0. PMID: 18682982

Clinical prediction guides

Fingerhut R
Eur J Pediatr 2009 May;168(5):599-604. Epub 2008 Aug 6 doi: 10.1007/s00431-008-0804-0. PMID: 18682982

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