Hyperdibasic aminoaciduria type 1

MedGen UID:: 435997
•Concept ID:: C2673736
•: Disease or Syndrome

Synonym:	Dibasic amino aciduria i

Monarch Initiative:	MONDO:0009108
OMIM®:	222690

Definition

Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. [from MONDO]

Clinical features

From HPO

Hyperlysinuria

MedGen UID:: 867368
•Concept ID:: C4021733
•: Finding

An increased concentration of lysine in the urine.

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Ornithinuria

MedGen UID:: 871131
•Concept ID:: C4025602
•: Finding

Level of ornithine in the urine above the upper limit of normal.

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Argininuria

MedGen UID:: 871162
•Concept ID:: C4025635
•: Finding

A increased concentration of arginine in the urine.

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Dibasicaminoaciduria

MedGen UID:: 871169
•Concept ID:: C4025643
•: Disease or Syndrome

An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).

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Malabsorption

MedGen UID:: 811453
•Concept ID:: C3714745
•: Finding

Impaired ability to absorb one or more nutrients from the intestine.

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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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Abnormality of the digestive system
- Malabsorption
Abnormality of the genitourinary system
Abnormality of the nervous system
- Intellectual disability

Professional guidelines

PubMed

Metabolic Serendipities of Expanded Newborn Screening.

Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D
Genes (Basel) 2020 Aug 29;11(9) doi: 10.3390/genes11091018. PMID: 32872442 Free PMC Article

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC
Orphanet J Rare Dis 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. PMID: 30285816 Free PMC Article

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Recent clinical studies

Etiology

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL
J Clin Endocrinol Metab 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. PMID: 34136918 Free PMC Article

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