Cysteine Peptiduria

MedGen UID:: 346587
•Concept ID:: C1857438
•: Disease or Syndrome

Synonym:	CYSTEINE PEPTIDURIA

Monarch Initiative:	MONDO:0009059
OMIM®:	219550

Clinical features

From HPO

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.

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Abnormal circulating glycine concentration

MedGen UID:: 1684773
•Concept ID:: C5139043
•: Finding

Any deviation from the normal concentration of glycine in the blood circulation.

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Abnormal circulating cysteine concentration

MedGen UID:: 1684824
•Concept ID:: C5139050
•: Finding

An abnormality of a cysteine metabolic process.

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Abnormality of metabolism/homeostasis
- Abnormal circulating cysteine concentration
- Abnormal circulating glycine concentration
Abnormality of the nervous system
- Intellectual disability

Recent clinical studies

Etiology

Cysteine peptiduria in a mentally retarded patient.

Ben-Ami E, Burstein I, Cohen BE, Szeinberg A
Clin Chim Acta 1973 May 30;45(4):335-9. doi: 10.1016/0009-8981(73)90033-8. PMID: 4730204

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Prognosis

Cysteine peptiduria in a mentally retarded patient.

Ben-Ami E, Burstein I, Cohen BE, Szeinberg A
Clin Chim Acta 1973 May 30;45(4):335-9. doi: 10.1016/0009-8981(73)90033-8. PMID: 4730204

See all (1)

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Cysteine Peptiduria

Clinical features

Recent clinical studies

Etiology

Prognosis

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