<unk>  generally becomes evident during infancy, but initial symptoms can first manifest anytime from birth to young adulthood. The condition results in a very diverse set symptoms, the severity of which can vary significantly between patients, depending on the degree to which<unk>  activity is hampered by the individual underlying mutation(s) in each case. It is even possible, though rare, for affected individuals to be asymptomatic, in which case the disorder can only be identified through laboratory screening of the prospective patient and/or their extended family. One of the signature features of<unk>  is the elimination of high quantities of peptides through urine. In addition, most of those affected exhibit persistent skin lesions (starting from a mild rash) or ulcers, primarily on the legs and feet, the formation of which normally begins during childhood. Clinically, these, among other dermatological issues, represent the most distinguishing and most frequent symptoms. These may never recede, potentially leading to severe infections that can, in the worst case, necessitate amputation.<unk>  patients exhibit a weak immune system and markedly elevated vulnerability to infections in general, and particularly those of the respiratory system, leading some who suffer from<unk>  to acquire recurrent lung disease. They may also have an enlarged spleen (splenomegaly), and on some occasions the spleen and liver may both be enlarged (hepatosplenomegaly). Photosensitivity and hyperkeratosis have been associated with<unk> . Abnormal facial characteristics, consisting of pronounced eyes which are spaced far apart (hypertelorism), a high forehead, a compressed bridge of the nose or saddle nose, and a small lower jaw and chin (micrognathia), are also observed in the majority of cases. Those affected by<unk>  can also suffer intellectual disabilities (approx. 75% of recorded cases do) ranging from mild to severe – mental development during childhood may therefore progress more slowly.
Prolidase deficiency
Dopamine transporter deficiency syndrome
Beta-ketothiolase deficiency
Dopamine beta hydroxylase deficiency
Gerstmann syndrome
Aromatic L-amino acid decarboxylase deficiency
Contiguous gene syndrome
Eruptive hypomelanosis